Haploinsufficiency gene deletion. Medical search. Frequent questions

However, genotype-phenotype correlations with genes other than elastin are not yet fully elucidated, and the sample size for studies involving individual genes has been small. (medscape.com)
The spectrum of speculations regarding which gene might be responsible for such phenotype ranges from single gene haploinsufficiency to deletion of a cluster of immunogenes located distally to 18q21. (nih.gov)
When this situation engenders a dominant phenotype we speak of haploinsufficiency (HI). (biomedcentral.com)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
We have been studying the molecular basis of the phenotype of individuals with large deletions of chromosome 18q. (psu.edu)
Terminal 6q deletions cause a common but highly variable phenotype. (biomedcentral.com)
As these deletions are rare, there is only limited information about their effect on the clinical phenotype. (biomedcentral.com)
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. (orpha.net)
Haploinsufficiency for the trans-acting T-cell-specific transcription factor GATA-3 (encoded by the GATA3 gene, and mapped to the 10p14-pter region) is responsible for this phenotype. (orpha.net)
The differential diagnosis for patients with distal monosomy 10p should include deletion 22q11 syndrome and other causes of hypoparathyroidism, depending on the phenotype. (orpha.net)
So far it has not been established if and to what extent other genes in the 9q34.3 region contribute to the phenotype observed in deletion cases. (eur.nl)
Direct sequence analysis of the EHMT1 gene in 24 patients exhibiting the 9qSTD phenotype without such deletion identified six patients with an intragenic EHMT1 mutation. (eur.nl)
Conclusions: The data do not provide any evidence for phenotype-genotype correlations between size of the deletions or type of mutations and severity of clinical features. (eur.nl)
Therefore, the authors confirm the EHMT1 gene to be the major determinant of the 9qSTDS phenotype. (eur.nl)
The other one is that mutation is any variation in the gene that causes an obvious change in phenotype whereas polymorphisms do not cause any obvious phenotypic variation. (tripod.com)
three different genes may cause the same phenotype). (tripod.com)
Fine-mapping of the region suggested that the majority (6 of 7) of these deletions encompassed the entire APC locus, confirming that haploinsufficiency can result in a classical polyposis phenotype. (ox.ac.uk)
The combined phenotype of Saethre-Chotzen syndrome and hand-foot-uterus syndrome of our patient closely resembles a previously reported case with a cytogenetically visible small deletion spanning 7p21-p14.3. (elsevierpure.com)
In addition, we identified a novel de novo PTEN gene mutation (p.D312Rfs*2) in a patient with a less severe presentation of SoS phenotype, which did not include pre- and postnatal overgrowth. (clemson.edu)
In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. (biomedcentral.com)
Our report confirms the etiological role of HMGA2 as a disease gene in the development of a SRS-like phenotype. (biomedcentral.com)
In the last decade, several studies have suggested the role of HMGA2 as candidate gene in those patients with SRS phenotype and negative result of classical genetic tests for SRS. (biomedcentral.com)
We report the clinical and genetic characteristics of a patient with SRS phenotype and a de novo 425 Kb microdeletion of 12q14.3 region encompassing the HMGA2 gene but not the LEMD3 gene. (biomedcentral.com)
Thus, displacement of this element by translocation may disturb gene expression, contributing to the observed language phenotype. (biomedcentral.com)
It is therefore likely that the observed phenotype is caused by altered expression of nearby genes. (biomedcentral.com)
TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. (biomedcentral.com)
The TBX1 gene, a member of a phylogenetically conserved T-box gene family of DNA-binding transcription factors, is mapped to the 22q11.2, and is hypothesised to be responsible for the cardiac phenotype of 22q11.2 deletion syndrome. (biomedcentral.com)
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness. (cdc.gov)
SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts. (cdc.gov)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

A mutation resulting in the deletion of the ALX4 gene causes a condition called Potocki-Shaffer syndrome. (medlineplus.gov)
Potocki-Shaffer syndrome (also called proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11. (medlineplus.gov)
The loss of additional genes in the deleted region likely contributes to the other features of Potocki-Shaffer syndrome. (medlineplus.gov)
In virtually all cases of Williams syndrome, haploinsufficiency (loss of 1 of 2 copies) due to a deletion at chromosome band 7q11.23 that involves the elastin gene ( ELN ) is implicated. (medscape.com)
Most deletions are not detected through standard karyotyping but rather through fluorescent in situ hybridization (FISH) for a 1.5-Mb deletion (Williams-Beuren syndrome chromosomal region [WBSCR]) or array comparative genomic hybridization. (medscape.com)
the deletion involves a region that spans more than 28 genes and, hence, is considered a contiguous gene deletion syndrome. (medscape.com)
Other genes within the region of the deletion are under investigation for their role in the cognitive profile of Williams syndrome, such as LIMK1, GTF1IRD1, GTF2IRD2 , GTF2I, NCF1, STX1A, BAZ1B, CLIP2, and TFII-1 . (medscape.com)
Point mutations or small intragenic deletions of ELN have been found in the autosomal dominant disorder familial supravalvular aortic stenosis (SVAS) without other characteristics of Williams syndrome. (medscape.com)
A deletion on band 7q11.23 near the elastin gene is identified in virtually all individuals with Williams syndrome. (medscape.com)
Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. (nih.gov)
Patients with 22q11.2 Deletion Syndrome (22q11.2DS) have a 25-30% risk of developing schizophrenia, and also suffer frequent hearing loss. (biorxiv.org)
In the Df1 /+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. (biorxiv.org)
Among rare diseases, the KANSL1 haploinsufficiency syndrome is one of the most common conditions. (bmj.com)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
Molecular Karyotyping in Anorectal Malformations: Could DGCR6 Gene Haploinsufficiency Cause Anal Atresia in 22q11 Deletion Syndrome? (jcpres.com)
IGF-I deficiency can be the result of GH resistance or insensitivity due to genetic disorders of the GH receptor causing GH receptor deficiency (growth hormone receptor deficiency [GHRD], Laron syndrome) or postreceptor defects, including the principal transduction agent STAT5b, the IGF-I/IGFBP3 stabilizer acid labile subunit (ALS), the IGF-I gene, or the IGF-I receptor. (medscape.com)
The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. (biomedcentral.com)
Despite considerable ongoing effort toward the identification of chromosome regions affected in autism and the characterization of many potential gene candidates, only a few genes have been reproducibly shown to display specific mutations that segregate with autism, likely because of the complex polygenic nature of this syndrome. (neurotransmitter.net)
Background: The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. (eur.nl)
The syndrome can be either caused by a submicroscopic 9q34.3 deletion or by intragenic EHMT1 mutations leading to haploinsufficiency of the EHMT1 gene. (eur.nl)
This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. (nih.gov)
BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. (bmj.com)
SMS is considered a contiguous gene deletion syndrome 1 and 95% of patients harbour a common deletion of approximately 5 Mb. (bmj.com)
To estimate the frequency of NSD1 defects in the Brazilian SoS population and possibly reveal other genes implicated in the etiopathogenesis of this syndrome, we collected a cohort of 21 Brazilian patients, who fulfilled the diagnostic criteria for SoS, and analyzed the NSD1 and PTEN genes by means of multiplex ligation-dependent probe amplification and mutational screening analyses. (clemson.edu)
2q37 deletion syndrome is a condition that can affect many parts of the body. (medlineplus.gov)
Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
Unusual physical features are also common in people with 2q37 deletion syndrome. (medlineplus.gov)
Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. (medlineplus.gov)
A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor . (medlineplus.gov)
2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
Researchers are working to identify all of the genes whose loss contributes to the features of 2q37 deletion syndrome. (medlineplus.gov)
While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene. (medlineplus.gov)
Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome. (medlineplus.gov)
Most cases of 2q37 deletion syndrome are not inherited. (medlineplus.gov)
We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. (biomedcentral.com)
Caused by a heterozygous multi-gene deletion, 22q11.2 deletion syndrome (22q11DS) is a relatively common genetic disorder (1:4000 live births). (biomedcentral.com)
Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. (dspace-express.com)
SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. (dspace-express.com)

The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
A paired box gene 6 ( PAX6 ) missense mutation, p.T391A, has been described in a patient with bilateral ONA, nystagmus, and normal anterior eye segments. (molvis.org)
Such imbalances stem from under- or over-expression of a subunit of a complex consequent to a deletion, duplication or regulatory mutation of an allele encoding the relevant protein. (biomedcentral.com)
To gain insight into the biochemical bases of the effects of stoichiometric imbalances, we explore the consequences of under- or over-expression of a subunit of a complex due, for instance, to a deletion, duplication or regulatory mutation of an allele encoding the relevant protein in a diploid organism. (biomedcentral.com)
The only specific treatment available for patients with genetic disorders causing GH resistance with growth failure due to GHRD, STAT5b mutations, ALS mutations, or IGF1 gene mutation is rhIGF-I. (medscape.com)
It has been hypothesized that the mutation found in these subjects resulted in a loss of gene function resulting in obesity due to haploinsufficiency of the MC4R gene. (psu.edu)
An intronic mutation may well result in a non-functional gene (like the splicing site mutation in CYP21A2 ). (tripod.com)
Screening for germ-line deletions in APC mutation-negative individuals with classical polyposis seems warranted. (ox.ac.uk)
200610) is caused by mutation in the COL2A1 gene (120140). (beds.ac.uk)
Mutation-driver genes cause clonal outgrowth and propagation of myelodysplastic hematopoiesis. (standardofcare.com)
The aim of the study was to screen the mutation of TBX1 and CRKL in isolated CTDs Chinese patients without 22q11.2 deletion and identify the pathomechanism of the missense mutations. (biomedcentral.com)
No mutation of CRKL gene was found. (biomedcentral.com)
This is the first human missense mutation showing that TBX1 is a candidate causing isolated CTDs in Chinese patients without 22q11.2 deletion. (biomedcentral.com)

The underlying etiology is believed to be unequal meiotic crossover events that lead to interstitial deletions. (medscape.com)
To our knowledge, this is one of the smallest interstitial deletions in the chromosome 22q11.2 region to be published to date. (jcpres.com)
Here, we report our findings on 93 individuals with terminal 6q deletions and 11 individuals with interstitial 6q26q27 deletions, a cohort that includes 38 newly identified individuals. (biomedcentral.com)
These individuals were diagnosed by conventional cytogenetic methods, and interstitial deletions including only the proximal part of 6q27 were also considered to be terminal. (biomedcentral.com)
We describe a patient with a rare interstitial deletion of chromosome 7p21.1-p14.3 detected by array-CGH. (elsevierpure.com)

If hemizygosity of the MC4R gene results in haploinsufficiency-induced obesity, then individuals with deletions of 18q whose deletions include the MC4R gene should be obese in comparison with those individuals whose deletion does not include the gene. (psu.edu)

Terminal 6q deletions are a variable group of chromosome disorders, with the largest deletions extending from 6q25.2 to 6qter (up to 16 Mb in size) and the smallest deletions restricted to the most distal band 6q27 (as small as 390 kb in size) [ 1 ]. (biomedcentral.com)
Deletions ranged between 248 and 482 kb in size and all distal breakpoints clustered within a complex 144 kb palindrome situated 75 kb upstream of SRRM2. (ox.ac.uk)
The distal region of mouse chromosome 7 (Chr 7) contains at least ten imprinted genes, several of which are expressed from the maternal homologue in the placenta. (biomedcentral.com)
Taken together, our results demonstrate that all the distal chromosome 7 imprinted genes implicated in placental function are silenced by IC2 and Kcnq1ot1 on the paternal allele. (biomedcentral.com)
Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. (dspace-express.com)

To predict the most promising candidate genes, we used the ENDEAVOUR-a free web resource for gene prioritization. (nih.gov)
Genomewide copy number screening using microarray-based comparative genomic hybridization (arrayCGH) revealed a microdeletion of 10q23.33q23.33, potentially implicating the cytochrome p450, subfamily XXVIA, polypeptide 1 ( CYP26A1 ) and cytochrome p450, subfamily XXVIC, polypeptide 1 ( CYP26C1 ) genes encoding retinoic acid (RA)-degrading enzymes as novel candidate genes for ONA. (molvis.org)
Among those, several candidate genes have been shown to control the early patterning and/or the late synaptic maturation of specific neuronal subpopulations controlling the balance between excitation and inhibition in the developing cortex and cerebellum. (neurotransmitter.net)
Finally, we review the classes of genes that have been linked to autism in recent genetic studies and discuss several candidate genes in the context of this neurodevelopmental hypothesis. (neurotransmitter.net)
Recently, mutations and possible pathogenetic rare CNVs, both affecting a few candidate genes for overgrowth, have been reported in patients with Sotos-like overgrowth features. (clemson.edu)

Three larger deletions (264-314 kb) that included at least five further centromeric genes were associated with moderate ID, suggesting that deletion of one or more of these five genes causes ID. (ox.ac.uk)
2 SMS patients with smaller and larger deletions have also been reported 3 and are considered to have atypical sized deletions. (bmj.com)

The phenotypes were comparable up to a deletion size of 7.1 Mb, and most features could be attributed to the terminally located gene DLL1 . (biomedcentral.com)
Finally, we provide evidence that cellular phenotypes associated with autism-linked gene haploinsufficiency can be rescued by transcriptional activation of the intact allele in vitro, offering a proof of concept for a potential therapeutic approach for ASDs. (nature.com)
Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. (eurospe.org)
However, the remaining genes in the cluster ( Ascl2 , Phlda2 , and Cdkn1c ) have well-documented roles in placentation since knockouts of each of these genes result in drastic placental phenotypes. (biomedcentral.com)
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. (medlineplus.gov)

We describe six families harboring heterozygous deletions including, or near to, ERF, of which four were characterized by whole-genome sequencing and two by chromosomal microarray. (ox.ac.uk)

Df1 /+ mice have a multi-gene deletion analogous to the chromosomal microdeletion that causes human 22q11.2DS, and like human 22q11.2DS patients exhibit high rates of hearing loss arising primarily from susceptibility to middle ear inflammation. (biorxiv.org)
These results reveal bottom-up neurobiological mechanisms through which peripheral hearing loss arising from the 22q11.2 deletion may promote the emergence of schizophrenia-relevant auditory brain and behavioral abnormalities, and also suggest a link between conductive hearing loss and reduced PV+ interneuron density in the auditory cortex. (biorxiv.org)
Deletion of chromosomal locus 22q11.2 is associated with both schizophrenia and hearing loss in humans. (biorxiv.org)
These results suggest mechanisms through which hearing loss associated with the 22q11.2 deletion may promote emergence of schizophrenia-relevant auditory brain and behavioral abnormalities and indicate that conductive hearing loss may influence PV+ interneuron density in the auditory cortex. (biorxiv.org)
Results: Chromosome 22q11.2 deletion was detected in 2 patients. (jcpres.com)
We enrolled 199 non-22q11.2 deletion patients with CTDs and 139 unrelated healthy controls. (biomedcentral.com)
To better address the issue of the link between TBX1 and isolated CTDs, we performed TBX1 gene sequencing in a large sample of Chinese isolated CTDs patients without 22q11.2 deletion. (biomedcentral.com)

We have developed a real-time quantitative multiplex PCR assay to detect APC exon 14 deletions. (ox.ac.uk)

3 ] described another 28 individuals with pure terminal 6q deletions diagnosed by conventional cytogenetic methods or array CGH, with all findings confirmed by FISH. (biomedcentral.com)
Diagnosis requires cytogenetic analysis and molecular characterization and should include a search for a translocation because deletion may be the result of transmission of a derivative chromosome. (orpha.net)
Prenatal diagnosis is feasible and genetic counseling should be proposed and depends on the cytogenetic rearrangement responsible for the deletion ( de novo or translocation). (orpha.net)

The mutations that cause enlarged parietal foramina result in the production of an ALX4 protein that cannot bind to DNA, which alters the regulation of multiple genes. (medlineplus.gov)
The pathogenesis of CTDs is heterogeneous and involves multiple genes and environmental factors. (biomedcentral.com)

SVs identified by OGM were filtered by a control database to remove polymorphic variants and against an established gene list to prioritize clinically relevant findings before comparing with CMA and FISH results. (bvsalud.org)

Using data from the 100,000 Genomes Project, four unrelated individuals with intellectual disability (ID) were identified, each harbouring de novo whole gene deletions of SRRM2. (ox.ac.uk)
De novo loss of function mutations in the ubiquitin ligase-encoding gene Cullin3 ( CUL3) lead to autism spectrum disorder (ASD). (nature.com)
CUL3 ASD-associated genetic variants are most often de novo missense or loss of function (loF) mutations, dispersed throughout the entire gene and affecting distinct protein domains. (nature.com)

We aimed to determine the prevalence, mechanism, and genetic background of autoimmunity, immune deficiency, and allergy in a cohort of patients with 18q deletions. (nih.gov)
Microarray oligonucleotide comparative genomic hybridization (aCGH) (Agilent, Santa Clara, CA, USA) was performed in all patients to identify size and location of chromosome 18 deletion. (nih.gov)
Patients with 18q deletions frequently suffer from autoimmune disorders, recurrent infections, and allergy due to immune dysregulation presenting with variable antibody deficiencies and T-regulatory cell deficiency (CD4+CD25+CD127lowFOXP3+). (nih.gov)
One of these patients had anal stenosis, minor cardiac abnormalities, and a small 0.89-Mb deletion. (jcpres.com)
The overlapping genes in the deletion regions of the 2 patients were the DGCR5, DGCR6, and PRODH genes. (jcpres.com)
For those with secondary forms of GH resistance, other than that due to GH inactivating antibodies in rhGH-treated patients with GH1 gene deletion who require rhIGF-I treatment, the underlying cause (eg, malnutrition, liver disease) should be identified and treated appropriately. (medscape.com)
Myeloid malignancy patients lacking one copy of this gene showed levels of MYBL2 expression that were less than 50% of those in healthy individuals. (elifesciences.org)
Hence, this finding reveals a more general role for MYBL2 as it indicates that more patients are likely to be affected by altered expression of this gene. (elifesciences.org)
Interestingly, five of six patients who had reached adulthood had developed severe psychiatric pathology, which may indicate that EHMT1 haploinsufficiency is associated with neurodegeneration in addition to neurodevelopmental defect. (eur.nl)
The majority of patients have a common deletion characterised at the molecular level. (bmj.com)
Physical mapping studies indicate that all patients with the common deletion are haploinsufficient for subunit 3 of the COP9 signalosome ( COPS3 ), which is conserved from plants to humans, and in the plant Arabidopis thaliana regulates gene transcription in response to light. (bmj.com)
Haploinsufficiency of this gene is hypothesised to be potentially involved in the sleep disturbances seen in these patients. (bmj.com)
Five of the 28 patients did not have the common SMS deletion. (bmj.com)
Haploinsufficiency of the NSD1 gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS. (clemson.edu)
ARID1B , found in eight patients, was the most frequently altered gene. (biomedcentral.com)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)

The genetic basis of this condition remains largely unknown, as no developmental genes other than paired box gene 6 ( PAX6 ) are known to be implicated in sporadic bilateral ONA. (molvis.org)
The deletion encompassed 74 genes and caused haploinsufficiency (or loss of allele) of 6 genes known to be implicated in different autosomal dominant genetic disorders: TWIST, DFNA5, CYCS, HOXA11, HOXA13, and GARS. (elsevierpure.com)

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. (cdc.gov)
The prevalence of SHOX gene deletion in children with idiopathic short stature. (cdc.gov)

Based on our findings, we provide recommendations for clinical follow-up and surveillance of individuals with terminal 6q deletions. (biomedcentral.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

More than 90% of cases of MDS harbor detectable drive mutations including: DNMT3A, EZH2, RUNX 1, TET 2, IDH 1, IDH 2, TP53, ASXL1, and mutations in genes in coding components involved in the three prime RNA splicing. (standardofcare.com)

The recommended practice for individuals suspected of a genetic etiology for disorders including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA) involves a genetic testing workflow including chromosomal microarray (CMA), Fragile-X testing, karyotype analysis, and/or sequencing-based gene panels. (bvsalud.org)
CIN can promote selective advantage to cancer cells by increasing the probability of novel chromosomal abnormalities, which can change the expression profile of the genes regulating cell division and differentiation, resulting in high proliferation rates [ 3 ] [ 4 ] . (encyclopedia.pub)

The chromosome 7q31 breakpoint was mapped to a position 205 kb downstream of the FOXP2 locus and 22 kb upstream of the MDFIC gene (Fig. 1a ). (biomedcentral.com)

DBA is an autosomal dominant or X-linked disorder caused by inactivating variants within ribosomal protein genes RPS19 (Gazda and Sieff. (preventiongenetics.com)

The size of the deletion varies among affected individuals, with most affected people missing 2 million to 9 million DNA building blocks (also written as 2 Mb to 9 Mb). (medlineplus.gov)

Dissection of contiguous gene effects for deletions around ERF on chromosome 19. (ox.ac.uk)

Highly polymorphic regions (such as HLA genes) are not represented either due to difficulty with designing primers because of the lack of constant regions flanking the variants. (tripod.com)

Genomic imprinting is the mechanism by which haploid maternal and paternal genomes carry different epigenetic marks, resulting in monoallelic transcription of a subset of genes which are expressed exclusively from either the maternal or paternal allele [ 1 ]. (biomedcentral.com)

In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)

The smallest (32 kb) and only inherited deletion included two additional centromeric genes and was not associated with ID. (ox.ac.uk)
We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions. (dspace-express.com)

Given that ARM are caused by abnormalities in neural crest cell migration, it may be that these genes play a role in the etiology. (jcpres.com)

The ALX4 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of certain genes. (medlineplus.gov)
This feature occurs because a shortage of the ALX4 transcription factor caused by deletion of the gene disrupts several cellular processes and impairs proper bone formation (ossification). (medlineplus.gov)
The most critical of these proteins is the signal transducer and activator of transcription 5b (STAT5b), which couples GH binding to the activation of gene expression that leads to the intracellular effects of GH, including synthesis of IGF-I, insulin-like growth factor binding protein 3 (IGFBP3), and ALS. (medscape.com)
The gene, which is called MYBL2 , encodes a transcription factor that helps to control the cell division cycle. (elifesciences.org)
These proteins act as architectural transcription factors that regulate the trascriptional activity of several genes. (biomedcentral.com)

We have specifically shown an atypical activation pattern of interferon downstream signaling that involves both IFN-γ- and IFN-α-responsive genes in pre-symptomatic Npc1 −/− cerebella. (biomedcentral.com)

Pure subtelomeric deletions involving 10p15-ter are very rare ( (orpha.net)

Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)

HMGA2 gene encodes for the HMGA2 protein, member of the "high-mobility group AT-hook" (HMGA) family. (biomedcentral.com)

Conclusion: DGCR6 alters the expression of important genes such as TBX1 and affects neural crest migration. (jcpres.com)

We conclude that downregulation of MYBL2 activity below levels predicted by classical haploinsufficiency underlies the clonal expansion of hematopoietic progenitors in a large fraction of human myeloid malignancies. (elifesciences.org)

This deletion is molecularly defined by the identification of a patient specific junction fragment by Southern analysis following pulsed field gel electrophoresis (PFGE). (bmj.com)

In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)

ALX4 gene mutations cause a form of the disorder called frontonasal dysplasia type 2. (medlineplus.gov)
It is unclear what role the other genes on 2q37 play in this disorder. (medlineplus.gov)

The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
This suggests that additional mechanisms must be acting to reduce expression of their remaining copy of the gene. (elifesciences.org)
used gene silencing techniques to reduce the expression of MYBL2 in mice and showed that this induced symptoms of myeloid malignancies in the animals. (elifesciences.org)
Imprinted expression of several of the IC2-regulated genes critical to placentation is also faithfully recapitulated in DelTel7/IC2KO placentae. (biomedcentral.com)
We show that this element drives reporter gene expression in human cell-lines. (biomedcentral.com)
were not able to reliably determine if the breakpoint affected FOXP2 regulation, because this gene shows very low expression in fibroblasts. (biomedcentral.com)
Element 1, but not Element 2 was able to enhance the activity and therefore the expression of the reporter gene. (biomedcentral.com)
Expression of IFN-γ- and IFN-α-responsive genes in pre-symptomatic Npc1 −/− /App −/− cerebella is upregulated compared with Npc1 −/− /App +/+ mice, compounding the dysregulation of microglial activation, anti-viral response, activation of antigen-presenting cells, and T-lymphocyte activation and chemotaxis pathways present in the NPC brain. (biomedcentral.com)
Regarding animal models in ASD, many studies focus on gene expression, cortical neuronal migration and cell maturation, and neural network deficits. (bvsalud.org)
However, very few studies directly link animal oral communication and gene expression in cortical areas of language. (bvsalud.org)

Furthermore, our results demonstrate that the methylated maternal IC2 is not required for the regulation of nearby genes. (biomedcentral.com)

The human TERT gene (hTERT) is translated into a protein of 1132 amino acids. (wikipedia.org)
The ALX4 gene provides instructions for making a member of the homeobox protein family. (medlineplus.gov)
Specifically, the protein controls the activity of genes that regulate cell growth and division (proliferation), cell maturation and specialization (differentiation), cell movement (migration), and cell survival. (medlineplus.gov)
The ALX4 gene mutations that cause frontonasal dysplasia type 2 severely reduce or eliminate the function of the ALX4 protein. (medlineplus.gov)
As a result, the protein cannot bind to DNA and regulate gene function, which leads to poorly controlled cell proliferation and migration during development. (medlineplus.gov)
This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. (nih.gov)
However, ~20,000 is the number of protein-coding genes. (tripod.com)
Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. (dspace-express.com)

The critical region for DGS2 has been mapped to within a 1cM interval in 10p13 which contains the CUGBP2 gene, a candidate gene for developmental heart defects. (orpha.net)

Based on the severity of associated intellectual disability (ID), we identify three categories of ERF-associated deletions. (ox.ac.uk)
Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4 , is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). (medlineplus.gov)

However, the molecular and cellular functions of the majority of the identified genes remain poorly understood. (nature.com)
Gene Set Enrichment Analysis and Ingenuity Pathway Analysis were utilized for molecular mapping and functional upstream pathway analyses of highly differentially expressed genes. (biomedcentral.com)

Genetic testing can do this, too, but it is more complicated to interpret, as scientists need to know whether a change in the gene sequence is pathogenic or a harmless variation, and genetic deletions require further analysis. (alzforum.org)

The presumed gene count of 100,000 for human genome drastically went down to around 20,000 after the completion of Human Genome Project. (tripod.com)

The haploinsufficiency score should be used to evaluate deletions and Triplosensitivity scores for duplications. (goldenhelix.com)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. (ox.ac.uk)
Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal tumor predisposition that results from germ-line mutations in the APC gene (chromosome 5q21). (ox.ac.uk)
Progranulin surfaced independently in the laboratories of Christine van Broeckhoven at the VIB-University of Antwerp, Belgium, and of Michael Hutton, then at the Mayo Clinic Jacksonville, Florida, as the gene for the tau-negative form of frontotemporal dementia 17 (FTLD-U). This highly familial disease frequently strikes people younger than 65 (see ARF related news story ). (alzforum.org)

Due to its location at 18q21.3, the MC4R gene is hemizygous in approximately one-third of the individuals in our study. (psu.edu)

The target genes were predicted using miRWalk, Targetscan and miRDB, and GO and KEGG pathway analyses were performed for gene enrichment studies. (bvsalud.org)

Anatomy16

Organisms7

Diseases67

Chemicals and Drugs45

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology2

Phenomena and Processes89

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science3

Phenotype31

Syndrome38

Mutation14

Interstitial5

Individuals with deletions1

Distal5

Candidate genes5

Larger deletions2

Phenotypes5

Heterozygous1

22q11.27

Exon1

Cytogenetic3

Multiple genes2

Clinically1

Novo3

Patients16

Known to be implicated2

SHOX2

Clinical2

Mutations in genes1

Chromosomal2

Locus1

Autosomal dominant1

Size of the deletion1

Contiguous1

Designing primers1

Allele1

Transcriptional1

Centromeric2

Etiology1

Transcription5

Atypical1

Subtelomeric1

Investigated by prenatal diagnosis1

Encodes1

TBX11

Clonal1

Molecularly1

Single gene1

Disorder2

Expression11

Nearby genes1

Protein9

Heart defects1

Intellectual disability2

Molecular2

Sequence1

Genome1

Duplications1

Familial3

Hemizygous1

Analyses1