• Iron-sulfur protein NUBPL (IND1) also known as nucleotide-binding protein-like (NUBPL), IND1 homolog, Nucleotide-binding protein-like or huInd1 is an iron-sulfur (Fe/S) protein that, in humans, is encoded by the NUBPL gene, located on chromosome 14q12. (wikipedia.org)
  • Complex compound heterozygous variants were identified in the NUBPL gene in this patient. (wikipedia.org)
  • Although mutations or deletions of the SMARCB1 gene play a role in the development of MRT, the events that incite these genetic alterations are unknown. (medscape.com)
  • Herein, we report biallelic deletions in SOX10, a gene associated with Waardenburg syndromes type II and IV. (nih.gov)
  • Through positional cloning, we identified disease-causing mutations in the AGPAT2 gene (located on chromosome 9q34, encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2) in affected subjects from 26 of 42 pedigrees of various ethnicities. (utsouthwestern.edu)
  • It is also of interest to note that only five pedigrees revealed mutations in the BSCL2 gene located on chromosome 11q13. (utsouthwestern.edu)
  • The underlying genetic abnormality in harlequin ichthyosis is a mutation in the lipid-transporter gene ABCA12 on chromosome 2. (medscape.com)
  • Mutations in ABCA12 , a gene that encodes adenosine triphosphate (ATP)-binding cassette transporter (ABC), subfamily A, member 12, in chromosome region 2q35, underlie this disorder. (medscape.com)
  • People normally have four alpha genes (two on each of a pair of chromosomes) because the alpha gene is duplicated. (msdmanuals.com)
  • Beta-thalassemia results from decreased production of beta-polypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin (Hb) A. Mutations or deletions may result in partial loss (beta + allele) or complete loss (beta 0 allele) of beta globin function. (msdmanuals.com)
  • Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene, located on chromosome 4. (pediatricneurosciences.com)
  • Next-generation sequencing in the index child detected a novel homozygous two base pair deletion in exon 2 of the CYP2U1 gene that results in a frameshift and premature truncation of the protein 19 amino-acid downstream to codon 361. (pediatricneurosciences.com)
  • [2] It has autosomal recessive inheritance, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene, located on chromosome 4. (pediatricneurosciences.com)
  • Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. (medlineplus.gov)
  • John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M, Ahmad W. Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. (medlineplus.gov)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. (nih.gov)
  • 2Center of Young children Oncology and Hematology, Sverdlovsk Area Clinical Hospital for Children No. one, Ekaterinburg, Russian Federation Background: Sort three of von Willebrand illness (vWD) demands two pathogenic variants ( DYRK4 Inhibitor Purity & Documentation compound or homozygous) inside the vWF gene. (pkcinhibitor.com)
  • The vWF gene consists of 52 exons and lies within the 12th chromosome. (pkcinhibitor.com)
  • We report here a case of a 28-year-old Japanese woman diagnosed with JS with oculorenal defects with a novel compound heterozygous mutation (p.Ser219*/deletion) in the NPHP1 gene. (biomedcentral.com)
  • A number sign (#) is used with this entry because of evidence that histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness (histiocytosis-lymphadenopathy plus syndrome) is caused by homozygous or compound heterozygous mutation in the SLC29A3 gene (612373) on chromosome 10q22. (findzebra.com)
  • Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is a common autosomal co-dominant genetic disorder caused by mutations on the SERPINA1 gene (chromosome 14) that may be clinically characterized by lung (emphysema, chronic obstructive pulmonary disease-COPD) and/or liver (cirrhosis) disease. (biomedcentral.com)
  • Homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13 is the cause of GPI deficiency. (biomedcentral.com)
  • Glucose-6-phosphate isomerase (GPI) deficiency (MIM 613470), one of hereditary nonspherocytic hemolytic anemias (HNSHA), is a rare autosomal recessive hereditary disease caused by homozygous or compound heterozygous mutations of GPI gene on chromosome 19q13 [ 1 ]. (biomedcentral.com)
  • Here, we reported a patient with compound heterozygous mutation of the GPI gene who presented chronic hemolytic anemic features and reviewed correlative literature. (biomedcentral.com)
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
  • Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. (bvsalud.org)
  • A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. (findzebra.com)
  • The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
  • All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
  • Heterozygous variants in the NUBPL were identified in one patient. (wikipedia.org)
  • Two variants were maternally-inherited: T>C point mutation (c.815-27 T>C) that caused a splicing error and a complex deletion of exons 1-4 and duplication involving exon 7. (wikipedia.org)
  • Variant types cover a broad range including missense, in-frame deletions, nonsense, and frameshift variants. (preventiongenetics.com)
  • Both homozygous and compound heterozygous causative variants have been observed. (preventiongenetics.com)
  • The ability to detect CNVs in addition to single nucleotide variants and small insertion/deletions makes WES an attractive diagnostic tool for genetically heterogeneous disorders. (biomedcentral.com)
  • Here we examine the homozygous and heterozygous effects of 44,370 coding variants on 2,444 disease phenotypes using data from the nationwide electronic health records of 176,899 Finnish individuals. (nature.com)
  • In particular, we find variants that are known to cause diseases with recessive inheritance with significant heterozygous phenotypic effects. (nature.com)
  • Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. (nih.gov)
  • The affected individuals were either homozygous or compound heterozygous for various mutations including, deletions, nonsense, missense, splice-site, and those in the 3'UTR. (utsouthwestern.edu)
  • Identification of novel homozygous missense and deletion mutations manifesting oligospermia infertility in Kashmiri population. (cdc.gov)
  • Sugie HSugie YIto MFukuda TNonaka YIgarashi Y Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation. (jamanetwork.com)
  • The variant allele was found at a frequency of 0.000657 in 152254 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. (genebe.net)
  • Kcnq1ot1 expression can be abolished on the paternal chromosome by deleting IC2 (IC2KO allele). (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)
  • Alpha-thalassemia results from decreased production of alpha-polypeptide chains due to a deletion of one or more alpha genes. (msdmanuals.com)
  • There are two beta globin genes, and patients may have heterozygous, homozygous, or compound heterozygous mutations. (msdmanuals.com)
  • In addition, patients may be heterozygous or homozygous for abnormalities in 2 different globin genes (eg, beta and delta). (msdmanuals.com)
  • It occupies a particular position on one of the chromosomes, each of which is essentially a long chain of functional genes interspersed with regions of DNA which does not appear to code for specific traits. (vin.com)
  • The order of the genes is constant and does not usually change unless there is a break in the DNA strand and subsequent reattachment of the segment in a different location, a process resulting in changes such as those which cytogeneticists (scientists and technologists who study chromosomes) refer to as translocations and inversions. (vin.com)
  • 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)
  • There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. (marshfieldlabs.org)
  • Found in three heterozygous clinically asymptomatic Malay cases presented with Hb range 11.7-14.8 g/dL, MCV 69.1-80.8 fL and MCH 24.5-26.8 pg. (ithanet.eu)
  • The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. (nih.gov)
  • Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lef vre syndrome. (lu.se)
  • It is noteworthy that in some congenital motor neuropathies, the compound muscle action potentials may be normal due to collateral sprouting and, in this scenario, a neuropathy may only be diagnosed with electromyography. (bmj.com)
  • Cytogenetic, fluorescence in situ hybridization (FISH), and loss-of-heterozygosity (LOH) studies have revealed that MRTs frequently contain deletions at chromosome locus 22q11.1. (medscape.com)
  • compound heterozygosity. (nih.gov)
  • The mutation also reported in compound heterozygosity with SEA deletion [IthaID: 309]. (ithanet.eu)
  • A read depth-based copy number variation (CNV) detection algorithm using WES data of the family predicted a large heterozygous deletion mutation in the patient and her mother, which was validated by digital polymerase chain reaction, indicating that the patient was compound heterozygous for the paternal nonsense mutation and the maternal deletion mutation spanning the site of the single nucleotide change. (biomedcentral.com)
  • Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. (nature.com)
  • De novo assembly of the Aedes aegypti genome using Hi-C yields chromosome-length scaffolds. (nature.com)
  • One patient with a de novo deletion of chromosome arm 18q has been reported. (medscape.com)
  • 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al. (nih.gov)
  • Restriction analysis of mutation W797R, showing digestion with Bsr BI in a normal subject (lane 6), in 2 homozygous patients (lanes 3 and 5), and in 1 heterozygous patient (lane 4). (jamanetwork.com)
  • The most frequent molecular aetiology for DGS is definitely chromosome 22q11.2 deletion syndrome (22q11.2del) [30, 31]. (grandlacs-med-journal.com)
  • The imprinted region on distal mouse chromosome 7 (Chr 7) shares syntenic homology with human chromosome 11p15.5, a region associated with Beckwith-Wiedemann syndrome (BWS) and Wilms tumor. (biomedcentral.com)
  • Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. (bvsalud.org)
  • High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. (jamanetwork.com)
  • In this study, WES and a read depth-based CNV detection algorithm using WES data of the family identified not only a novel nonsense mutation but also a large heterozygous deletion mutation in NPHP1 , leading to the precise molecular diagnosis of JSRD. (biomedcentral.com)
  • Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. (nih.gov)
  • A little over half of individuals diagnosed with this recurrent deletion have intellectual disability or developmental delay, mainly in the areas of speech acquisition and cognitive function. (nih.gov)
  • Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
  • Our evaluation against the HG002 truth data has produced several metrics (such as f-score, recall and precision) across different variant types (such as SNP and indels), subtypes (such as insertions or deletions of specific size ranges) and genomic contexts (such as whole genome, coding regions, etc.), leading to thousands of computed numbers per challenge entry. (fda.gov)
  • This test is validated to detect 95% of deletions up to 75 base pairs (bp) and insertions up to 47 bp. (marshfieldlabs.org)
  • Deletions-insertions (delins) of 40 or more bp, including mobile element insertions, may be less reliably detected than smaller delins. (marshfieldlabs.org)
  • NUBPL is located on the q arm of chromosome 14 in position 12 and has 18 exons. (wikipedia.org)
  • It should be noted that analytical pipelines that focus purely on sequence information cannot distinguish homozygosity from hemizygosity because of its inability to detect large deletions. (biomedcentral.com)
  • Common among these 10 interactions of organic compounds, their power to detect excess cancer agents is the electrophilic nature of or their metabolites, with DNA and R 1 risk at particular sites. (who.int)
  • When the IC2KO mutation is paternally inherited, epigenetic silencing is lost in the region and the DelTel7 lethality is rescued in compound heterozygotes, leading to viable DelTel7/IC2KO mice. (biomedcentral.com)
  • The methods used in multigene panels may include sequence analysis , deletion/duplication analysis , and/or other non-sequencing-based tests. (nih.gov)
  • Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. (nih.gov)
  • Chronic blood loss, which frequently compounds iron deficiency, is commonly caused by intestinal parasitic infections, particularly hookworm. (cdc.gov)
  • For example, XIST (X-inactive specific transcript), one of the first described lncRNAs has a low level of sequence conservation, but a highly conserved function across placental mammals - inactivation of the X chromosome [ 5 ]. (biomedcentral.com)
  • Two of 232 (1%) control chromosomes were found to have the c.166 G>A pathogenic variant. (wikipedia.org)
  • Success: The deletion c.2435delC (Zhang, 1992) occurred in three sufferers in a homozygous state and in eight sufferers as a compound with one more pathogenic variant (Table 1). (pkcinhibitor.com)
  • Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. (nih.gov)
  • The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. (nih.gov)
  • The most common mutation is the deletion of 6 nucleotides at position 2281 and their replacement with 7 others, which occurs most commonly in Ashkenazi Jews. (medscape.com)
  • In 1 case, no other disruptions had been identified, except for c.2435delC in the heterozygous state. (pkcinhibitor.com)
  • Chromosome-scale shotgun assembly using an in vitro method for long-range linkage. (nature.com)
  • 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (nih.gov)
  • The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers. (who.int)
  • That may be due to the fact that while each cell contains exactly 2 copies of each nuclear chromosome, it contains numerous mitochondria and thus numerous copies of the MT chromosome (possibly 20-25 per cell, by one estimate). (massgenomics.org)