Autosomal recessive mutations. Medical search. Frequent questions

With this approach we studied 24 families with inherited retinal degenerations (14 with typical RP) for mutations in the genes PDE6B, MYL5 , PDE6C, CNCG , RHO, ROM1 and RDS-peripherin . (molvis.org)
In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
1 Forty recessive deafness loci (DFNB) have been mapped and the genes responsible at 20 of these loci have been reported. (bmj.com)
Subsequently good candidate genes were screened for mutations by direct sequencing. (molvis.org)
The candidate region spans eight genes, and DNA sequence analysis revealed homozygous nonsense and missense mutations in FZD(6), the gene encoding Frizzled 6. (scilifelab.se)
Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H+-ATPase that cause rdRTA. (unict.it)
However, now that genome-wide approaches can be applied to single multiplex consanguineous families, the identification of genes harboring disease-causing mutations by autozygosity mapping is expanding rapidly. (worktribe.com)
For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
There are an increasing number of reports showing that mutations in the ATG genes were identified in various human diseases such as neurodegenerative diseases, infectious diseases, and cancers. (nature.com)
Here, we review the major advances in identification of mutations or polymorphisms of the ATG genes in human diseases. (nature.com)
It can occur due to a mutation in over 50 different genes responsible for carrying the instructions on making proteins required in photoreceptors. (medicalnewstoday.com)
HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation is identified in genes encoding sarcomere proteins. (mdpi.com)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. (mpg.de)
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. (mpg.de)
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. (mayoclinic.org)
Although most of our variety comes from reshuffling of genes from our parents, new mutations are the ultimate source from which new variation is drawn. (uncommondescent.com)
Mutations in these genes result in diverse diseases collectively referred to as the laminopathies. (bmj.com)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
Mutations in the genes coding for these channels can lead to the condition. (medicalnewstoday.com)
So far, there are different subtypes of LQTS associated with 15 autosomal dominant and two autosomal recessive genes. (medicalnewstoday.com)
Purpose: To determine the genetic basis of autosomal dominant cornea plana (CNA1) through the performance of a genome-wide linkage analysis and screening of the decorin (DCN), dermatan sulfate proteoglycan 3 (DSPG3), forkhead box C1 (FOXC1), keratocan (KERA), lumican (LUM,) and paired-like homeodomain transcription factor 2 (PITX2) genes in members of an affected multigenerational family. (llu.edu)

Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. (nih.gov)
Most congenital non-syndromic hearing loss is inherited as a recessive Mendelian disorder. (bmj.com)
It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)
AMACR gene mutations that result in a lack of functional AMACR enzyme have also been identified in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. (medlineplus.gov)
Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. (nih.gov)
In an autosomal dominant disorder, the changed gene is a dominant gene. (mayoclinic.org)
A person with an autosomal dominant disorder - in this example, the father - has a 50% chance of having an affected child with one changed gene. (mayoclinic.org)
MIM 248370) is a rare autosomal recessive disorder. (bmj.com)
ABSTRACT Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. (who.int)
All the patients first presented milestones, mental retardation and (HRD) is an autosomal recessive disorder during the neonatal period, at around learning difficulties. (who.int)
Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among adults of northern European origin. (cdc.gov)
Several different mutations have been reported for each disorder. (medscape.com)
OMIM 241410)] is an authors (to avoid confusion and to main- autosomal recessive disorder first reported tain consistency). (who.int)
Limb-girdle muscular dystrophy type 2A is an autosomal recessive disorder generated by inactivating mutations in the gene coding for the muscle specific protease calpain-3. (lu.se)

We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. (scilifelab.se)
MSD has an autosomal recessive inheritance pattern. (wikipedia.org)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. (mpg.de)
Such factors include a tradition of consanguineous marriage , which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. (who.int)

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. (scilifelab.se)

Castaman G, Novella E, Castiglia E, Eikenboom JCJ, Rodeghiero F: A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. (karger.com)
Castaman G, Bertoncello K, Bernardi M, Eikenboom JC, Budde U, Rodeghiero F: Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation. (karger.com)
We expressed the FZD(6) missense mutation and observed a quantitative shift in subcellular distribution from the plasma membrane to the lysosomes, where the receptor is inaccessible for signaling and presumably degraded. (scilifelab.se)

Causes of autosomal-recessive intellectual disability (ID) have, until very recently, been under researched because of the high degree of genetic heterogeneity. (worktribe.com)
Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. (nih.gov)
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. (nih.gov)
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. (mpg.de)
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. (mpg.de)
Mutations in NSUN2 cause autosomal-recessive intellectual disability. (mpg.de)
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. (mpg.de)

Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. (scilifelab.se)

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. (ox.ac.uk)
Purpose: Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. (ox.ac.uk)

DNAs of the probands from the remaining families (where the gene locus cannot be ruled out from segregating with disease) are then screened for mutations in the exons of the candidate gene by SSCPE (single strand conformation polymorphism electrophoresis) and DGGE (denaturing gradient gel electrophoresis). (molvis.org)
In Kuwait, no precise data are the only exons where mutations have been available, although some reports have been previously reported [ 5 ]. (who.int)

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. (ox.ac.uk)
Mutations in the SNCA gene are found in early-onset Parkinson's disease. (medicinenet.com)
We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dysmorphisms. (bvsalud.org)

Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. (ox.ac.uk)

In many patients of these families with recessive VWD, molecular basis studies have provided insights into the molecular mechanisms responsible for the heterogeneity of phenotypes. (karger.com)
Eikenboom JCJ, Castaman G, Vos HL, Bertina RM, Rodeghiero F: Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. (karger.com)
However, several patients with ATP6V0A4 mutations have developed hearing loss, usually in young adulthood. (unict.it)
Using whole- exome sequencing , we discovered two novel compound SEC24D mutations of OI patients . (bvsalud.org)
Our study extended both the phenotypic and the genotype of the OI patients with SEC24D mutations . (bvsalud.org)
We discovered two novel compound SEC24D mutations of autosomal recessive OI patients . (bvsalud.org)
Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population. (nih.gov)
and sarcomeric-negative (Sarc−) patients, in whom a causal mutation has not been identified. (mdpi.com)
The role of INNO-LiPA HBV DR and ultra-deep pyrosequencing in detecting the resistance mutations to nucleoside/nucleotide analogues in viral samples isolated from chronic hepatitis B patients. (genomeweb.com)
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. (genomeweb.com)
Patients (dominant and recessive) have cutaneous anergy to Candida , absent proliferative responses to Candida antigen (but normal proliferative responses to mitogens), and intact antibody response to Candida and other antigens. (msdmanuals.com)
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome. (cdc.gov)

Epistasis - The different mutations that affect the same trait often interact, and when this happens, it is called epistasis. (uncommondescent.com)

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). (nih.gov)

Thus, the present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)
The present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations. (spandidos-publications.com)

In order to further delineate the molecular pathology of autosomal recessive cataracts, we investigated a consanguineous family with nuclear pulverulent cataracts and identified a novel germline CRYBB1 mutation. (molvis.org)

In the remaining four families we identified previously described mutations in a homozygous state in affected members. (scilifelab.se)
Conclusion: Although missense and nonsense mutations in KERA are associated with CNA2, we did not identify any of the previously described mutations or novel mutations that segregated with the disease phenotype in a family with CNA1. (llu.edu)

Intrafamilial cosegregation of the mutations with the hearing phenotype was confirmed in both families by the Sanger sequencing. (hindawi.com)
Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness. (hindawi.com)
It is one of the most common causes of ADNSHL in Mideast countries due to prevalent consanguineous marriage [ 22 , 23 ], with majority associated with prelingual severe-to-profound hearing loss and mutations in exon 2 leading to a milder auditory phenotype [ 23 ]. (hindawi.com)
This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN , which encodes a calcium-insensitive actin-bundling protein called espin. (bmj.com)
The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness. (bmj.com)
Further studies are required to define the underlying disease mechanism causing retinal degeneration as a result of mutations in ARL2BP and any phenotype-genotype correlation associated with residual levels of the wild-type transcript. (ox.ac.uk)
There is a highly specific genotype-phenotype correlation between the LMNA R527H mutation and MAD. (bmj.com)

Multiple sulfatase deficiency is caused by any mutation of the SUMF1 gene which renders its protein product, the formylglycine-generating enzyme (FGE), defective. (wikipedia.org)
We have recently shown that the hemorrhagic destruction of the brain, subependymal, calcification, and congenital cataracts is caused by biallelic mutations in the gene encoding junctional adhesion molecule 3 (JAM3) protein. (ox.ac.uk)
The p.M1R mutation affects the start codon and therefore is predicted to impair protein synthesis. (ox.ac.uk)
Cellular studies showed that the p.C219Y mutation resulted in a significant retention of the mutated protein in the endoplasmic reticulum, suggesting a trafficking defect. (ox.ac.uk)
Most individuals with AMACR deficiency have an AMACR gene mutation that replaces a protein building block (amino acid) called serine with an amino acid called proline at position 52 in the enzyme sequence, written as Ser52Pro or S52P. (medlineplus.gov)
Several skeletal dysplasias in specific dog breeds have been associated with mutations in members of the collagen gene family or its binding proteins ( 8 - 10 ), fibrilin related protein ( 11 ), as well as an altered sulfate transporter protein ( 12 ). (frontiersin.org)
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. (mpg.de)
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. (medscape.com)

Recently, MAD has been shown to be caused by a specific mutation (R527H) in LMNA , which encodes lamins A and C. (bmj.com)

Multiple sulfatase deficiency (MSD), also known as Austin disease, or mucosulfatidosis, is a very rare autosomal recessive: 561 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. (wikipedia.org)
Alpha-methylacyl-CoA racemase (AMACR) deficiency is caused by mutations in the AMACR gene. (medlineplus.gov)
This mutation results in a lack (deficiency) of functional enzyme. (medlineplus.gov)

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. (mpg.de)
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. (genomeweb.com)

The two novel mutations identified in this study, p.M413T in TMC1 and p.R1407T in MYO15A , are classified as likely pathogenic according to the guidelines of ACMG. (hindawi.com)
Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report. (nih.gov)

Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl‑tRNA synthetase 2 (RARS2) gene. (spandidos-publications.com)

17 Homozygosity for a single mutation (R527H) was found in all nine affected individuals, who also shared a common disease haplotype. (bmj.com)
Mutational analysis of the lamin A/C gene revealed homozygosity for the identical R527H mutation as reported previously, but with a distinct haplotype. (bmj.com)

Here, we report null mutations in a member of the extracellular matrix protease family, the gene encoding ADAMTS10, a disintegrin and metalloprotease with thrombospondin motifs. (nih.gov)

Average child has 60 genetic mutations? (uncommondescent.com)
All people are at risk of diseases due to genetic mutations. (who.int)

Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability. (genomeweb.com)
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. (genomeweb.com)

This is the exact opposite of the standard multiplicative population genetics model, wherein each mutation has less and less effect (one or both models must be wrong). (uncommondescent.com)

A further nine novel ATP6V0A4 mutations were found in 'sporadic' cases. (unict.it)
The gene mutations involved in RP can pass from one or both parents to a child or can be sporadic, meaning there is no identifiable family history. (medicalnewstoday.com)
Studies indicate that approximately 20% of RP cases may be autosomal recessive, 10-20% autosomal dominant, 10% X-linked recessive, and the rest sporadic. (medicalnewstoday.com)

15, 16 Recently, Novelli et al categorised mandibuloacral dysplasia as a laminopathy resulting from lamin A/C mutation. (bmj.com)

To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. (molvis.org)
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. (ox.ac.uk)

Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome. (cdc.gov)
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. (cdc.gov)

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)

Novelli et al analysed lamin A/C for mutations in five consanguineous Italian families with MAD. (bmj.com)

We have reported two typical ARRP families where the affecteds uniquely inherited compound heterozygous mutations in the PDE6B gene (12). (molvis.org)
With a similar approach, homozygous mutations also have been found in PDE6B in the affecteds of two other ARRP families (13,14). (molvis.org)

To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. (molvis.org)

These findings extend the spectrum of known LIPH mutations in the Pakistani population. (scilifelab.se)

To date, more than 60 mutations in TMC1 are reported worldwide [ 15 ], with the recessive mutations predominantly associated with prelingual severe-to-profound hearing loss [ 15 , 16 ]. (hindawi.com)
We report our experience with 12 families with clearly recessive inheritance, but definitely measurable factor VIII and VWF, which is not typical for severe type 3 VWD. (karger.com)
Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JCJ: Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. (karger.com)
Thus, our combined results show that FZD6 mutations can result in severe defects in nail and claw formation through reduced or abolished membranous FZD(6) levels and several nonfunctional WNT-FZD pathways. (scilifelab.se)
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. (unict.it)

Using whole- exome sequencing in two probands, we identified two novel compound heterozygous mutations in SEC24D. (bvsalud.org)

Detection of mutation in the ASPM gene in a family segregating autoso- mal recessive primary microcephaly. (nih.gov)
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. (mpg.de)

NMNAT1 RD3 RDH12 RPGRIP1 SPATA7 TULP1 USP45 Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. (nih.gov)
The mutation followed a Mendalian pattern with an autosomal recessive inheritance mode. (illumina.com)

We sought to characterize the phenotypes and identify the SEC24D gene mutations associated with Chinese families of osteogenesis imperfecta (OI). (bvsalud.org)

Sometimes, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene. (mayoclinic.org)

R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family. (illumina.com)

Anatomy8

Organisms9

Diseases45

Chemicals and Drugs22

Analytical, Diagnostic and Therapeutic Techniques and Equipment22

Psychiatry and Psychology2

Phenomena and Processes66

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Named Groups3

Health Care4

Geographicals1

Genes22

Disorder14

Inheritance pattern3

Mental retardation2

Underlies autosomal recessive1

Missense mutation3

Intellectual disability7

Nonsense mutation1

Retinitis Pigmentosa2

Exons2

Early-onset3

Parkinsonism1

Patients12

Different mutations1

Reveals novel mutations1

Genotypic spectrum2

Germline1

Previously described mutations2

Phenotype7

Protein8

Encodes1

Deficiency3

Frameshift mutation2

Pathogenic2

Synthetase1

Homozygosity2

Null mutations1

Genetic mutations2

Cerebellar2

Genetics1

Sporadic3

Dysplasia1

Congenital cataracts2

Variants2

Alleles1

Five consanguineous1

ARRP2

Molecular1

Spectrum1

Severe5

Compound1

ASPM2

Pattern2

Phenotypes1

Occurs1

Gene Results1