• A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. (mpg.de)
  • Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. (mpg.de)
  • 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)
  • In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. (unige.ch)
  • In a second group of 22 patients presenting with arterial tortuosity, stenosis and aneurysms, FBLN4 mutations were identified in three patients, two homozygous missense mutations (p.Glu126Lys and p.Ala397Thr) and compound heterozygosity for missense mutation p.Glu126Val and frameshift mutation c.577delC. (uzh.ch)
  • The search led to a homozygous, missense mutation in the vacuole protein-sorting gene VPS11 that subsequently turned up in other children with leukoencephalopathy. (genomeweb.com)
  • Furthermore, all confirmed BSD carriers were heterozygous, while all affected calves were homozygous for the glutamine allele consistent with recessive transmission of the underlying mutation and complete penetrance in the homozygous state. (au.dk)
  • Direct sanger sequencing of KCNV2 gene revealed a novel homozygous mutation c.280_281 insG (p.Ala94GlyfsTer278), confirming a diagnosis of CDSRR. (bvsalud.org)
  • ANKH gene mutations may also reduce the protein's ability to transport pyrophosphate out of cells. (medlineplus.gov)
  • Gene mutations: missense versus nonsense mutations, insertions, deletions and frameshifts. (manchester.ac.uk)
  • Twenty different gene mutations are responsible for the loss of function and integrity of the basal membrane zone. (go.jp)
  • These results provide the first genotype-phenotype correlations in ABCR gene mutations. (nih.gov)
  • Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (nel.edu)
  • At present, the Human Gene Mutations database provides 124 recessive mutations of SLC26A4 gene. (nel.edu)
  • DNA sequence analyses and reporter gene assays were performed in order to identify candidate gene mutations. (bmj.com)
  • Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (mda.org)
  • 1513 In more than 90% of cases, OI occurs due to mutations in the COL1A1 or COL1A2 genes. (wikipedia.org)
  • To date, mutations in 93 genes have been shown to cause the condition ( RetNet ). (molvis.org)
  • 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)
  • Mutations of 56 genes are reported to cause recessively inherited non-syndromic deafness. (bmj.com)
  • Methods and results Mutations of GJB2 and all other genes reported to underlie recessive deafness were ruled out as the cause of the phenotype in the affected members of the participating family. (bmj.com)
  • 20 000 protein coding genes (Parsons mutations. (who.int)
  • The mutation followed a Mendalian pattern with an autosomal recessive inheritance mode. (illumina.com)
  • RP is genetically heterogeneous, with autosomal dominant, autosomal recessive and X-linked patterns of inheritance. (molvis.org)
  • and an autosomal recessive or autosomal dominant form of inheritance. (medscape.com)
  • With an incidence of 1 in 3,500 of the population, inheritance may be X-linked, autosomal dominant, or autosomal recessive. (molvis.org)
  • Studies conducted on PRPF31 mRNA levels in lymphoblast cell lines isolated from family members with either deletion or splice site mutations indicate that penetrance requires the co-inheritance of a low expressing wild-type (WT) allele alongside the mutant allele [ 13 , 14 ], whereas the presence of a high expressing WT allele is protective. (molvis.org)
  • For a long time, autosomal recessive inheritance has been considered a unique feature of type 3 von Willebrand disease (VWD), which is characterized by the virtual absence of von Willebrand factor (VWF) in plasma and storage compartments. (karger.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)
  • Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E: Recessive inheritance of von Willebrand's disease type I. Lancet 1993;341:982-986. (karger.com)
  • Recently 3 missense mutations in the SLC7A9 gene have been identified with a possibly autosomal recessive mode of inheritance. (eurovetgene.com)
  • Upon analysing 162 patients with nonsyndromic recessive retinitis pigmentosa (RP) and 374 simplex cases of RP, we found two who were compound heterozygotes for mutations that cosegregated with disease in the respective families. (nih.gov)
  • Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene. (jneurosci.org)
  • To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper ( NRL) . (molvis.org)
  • Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. (molvis.org)
  • Attenuated Ch diak-Higashi syndrome is inherited in an autosomal recessive manner. (orpha.net)
  • The mutation is inherited in an autosomal recessive mode, meaning that a cat must inherit two mutated copies of the gene (alleles), one from each of the parent, in order to be affected by the disorder. (basepaws.com)
  • First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. (mpg.de)
  • The predominant mutation of this gene, reported in PTC, is a single transversion in exon 15 (T1799A), which results in substitution of valine to glutamate at residue 600 (BRAF V600E, formerly position 1796 and residue V599E). (nel.edu)
  • Mutation screening of exon 15 gene BRAF revealed three types of mutations, i.e. (nel.edu)
  • These variant mutations in DMP1 include deletions in exon 6, nucleotide substitution in the splice acceptor sequence of intron 2, and missense mutations in exons 2 or exon 3 that introduce the premature termination codon. (benthamscience.com)
  • 2002). Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. (antagene.com)
  • Accession S0005 Systematic name Allele 1: g.23382G>C, c.958G>C, r.958g>c, p.Glu320Gln Original code P1 Description Allele 1: A point mutation in the exon 11 leading to Description an amino acid change Date 23-Mar-2007 (Rel. (lu.se)
  • Accession S0007 Systematic name Allele 1: g.30990G>T, c.1389G>T, r.1389g>u, Systematic name p.Gln463His Original code P2 Description Allele 1: A point mutation in the exon 17 leading to Description an amino acid change Date 23-Mar-2007 (Rel. (lu.se)
  • This gene is inherited by autosomal recessive mode and it is segregated within the family with congenital hypothyroidism. (basepaws.com)
  • The high incidence of RET/PTC and Trk rearrangements or point mutations in RAS and c-MET oncogenes are the genetic hallmarks of PTC. (nel.edu)
  • 1%) are typically large deletions or inversions or point mutations that disrupt gene expression. (msdmanuals.com)
  • In contrast, hemophilia that is mild or moderate typically involves with point mutations that result in an amino acid change (missense mutation). (msdmanuals.com)
  • Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)
  • Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
  • In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)
  • The results reveal a mechanism by which quantitative competition between channel subunits for tetramer assembly can impact the phenotype of the mutation carrier. (elifesciences.org)
  • Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Braunisch MC, et al . (nih.gov)
  • Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): Phenotype-genotype correlations in 13 Moroccan families. (mda.org)
  • 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)
  • A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. (mayo.edu)
  • The mutation cosegregated with the hearing loss phenotype in the family and was absent from 800 chromosomes of ethnically matched control individuals as well as from 136 602 chromosomes in public databases of nucleotide variants. (bmj.com)
  • The enormous variants and mutations found mean that we are still far from being able to concretely clarify a genotype-phenotype relationship. (bvsalud.org)
  • Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (unicolmayor.edu.co)
  • At least three mutations in the FZD6 gene have been found to cause nonsyndromic congenital nail disorder 10. (encyclopedia.pub)
  • Analysis of BRAF (V600E) mutation was performed by single strand conformation polymorphism (SSCP) analysis and real-time allele-specific polymerase chain reaction (ASPCR) in tumour tissues from 25 patients with PTC. (nel.edu)
  • The maternal PLZF allele harbours a recessive missense mutation (c.1849A→G), which leads to the substitution of a highly conserved methionine by valine (p.Met617Val) within a zinc-finger motif. (bmj.com)
  • Furthermore, we provide the first evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations in humans. (uzh.ch)
  • Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. (cdc.gov)
  • Conclusions We identified a missense mutation of MET , encoding the hepatocyte growth factor receptor, as a likely cause of hearing loss in humans. (bmj.com)
  • the fourth mutation affects a splice donor site upstream of this region. (nih.gov)
  • 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)
  • A recessive mutation in the tub gene causes obesity, deafness and retinal degeneration in tubby mice. (nih.gov)
  • To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colom-bia suffering from RP and sensorineural deafness. (unicolmayor.edu.co)
  • These mutations may be hereditary in an autosomal dominant manner but may also occur spontaneously (de novo). (wikipedia.org)
  • They are known as the autosomal dominant and autosomal recessive types. (medlineplus.gov)
  • Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. (medlineplus.gov)
  • Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia impair the maturation (differentiation) of osteoclasts, which likely disrupts bone remodeling. (medlineplus.gov)
  • NRL mutations predominantly cause dominant retinal disease, but there have been five published reports of mutations causing recessive disease. (molvis.org)
  • The phenotypes observed are consistent with those in the previous reports, and the observed mutation types and distribution further confirm distinct patterns for variants in NRL causing recessive and dominant diseases. (molvis.org)
  • PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (mpg.de)
  • Chromosomal mutations: changes in chromosome number or structure. (manchester.ac.uk)
  • Furthermore, this case highlights the importance of searching for a recessive mutation on the non-deleted chromosome in patients with a microdeletion and atypical clinical findings. (bmj.com)
  • A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3. (mda.org)
  • A mutation in the GJA1 gene causes some cases of autosomal recessive craniometaphyseal dysplasia. (medlineplus.gov)
  • It is unclear how a mutation in the GJA1 gene leads to the particular bone abnormalities of craniometaphyseal dysplasia. (medlineplus.gov)
  • The genetic cause of many cases of autosomal recessive craniometaphyseal dysplasia is unknown. (medlineplus.gov)
  • 1993). Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. (antagene.com)
  • FZD6 encoding the Wnt receptor frizzled 6 is mutated inautosomal-recessive nail dysplasia. (encyclopedia.pub)
  • Raza SI, Muhammad N, Khan S, Ahmad W. A novel missense mutation in the geneFZD6 underlies autosomal recessive nail dysplasia. (encyclopedia.pub)
  • Hemophilia is an inherited disorder that results from mutations, deletions, or inversions affecting the factor VIII or factor IX gene. (msdmanuals.com)
  • Mutations in parkin (PARK2) and Pink1 (PARK6) are responsible for autosomal recessive forms of early onset Parkinson's disease (PD). (sdbonline.org)
  • 2013). IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. (antagene.com)
  • Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder of purine metabolism that leads to severe combined immunodeficiency (SCID) by primarily affecting lymphocyte development and function. (researchgate.net)
  • Herein we report a case of a 3 month old patient with ADA deficient SCID having a novel splicing mutation. (researchgate.net)
  • Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. (nih.gov)
  • 2013). A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. (antagene.com)
  • Missense mutations in PRPF31 have previously been shown to cause reduced protein solubility, suggesting insufficiency of functional protein as the disease mechanism. (molvis.org)
  • The RP11 missense mutations exert their pathology mainly via a mechanism based on protein insufficiency due to protein insolubility, but there is also a minor direct negative effect on function. (molvis.org)
  • Here, we report on the screening of the whole coding sequence of the ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations truncating the ABCR protein consistently led to STGD. (nih.gov)
  • The mutation in brush causes a small change in a protein belonging to the CNGC family. (elifesciences.org)
  • Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy. (mda.org)
  • Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (unicolmayor.edu.co)
  • Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. (unicolmayor.edu.co)
  • The mutations lead to the production of a frizzled-6 protein that cannot get to the cell membrane where it is needed or that cannot transmit signals into the cell. (encyclopedia.pub)
  • The genetic analysis from four patients with EB identified all novel mutations unreported in the dbSNP database. (go.jp)
  • Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. (unicolmayor.edu.co)
  • Regarding the histopathological variants of PTC, mutation in BRAF gene was more frequent in classic variant of PTC as compared with follicular variant of PTC. (nel.edu)
  • Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. (medlineplus.gov)
  • The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the disorder. (medlineplus.gov)
  • The mutation of BRAF gene is characteristic for PTC and poorly differentiated and/or undifferentiated cancers derived from PTC. (nel.edu)
  • 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)
  • In PLOS Genetics , researchers from the Icahn School of Medicine and elsewhere describe a founder mutation involved in a subset of autosomal recessive leukoencephalopathy cases, a condition marked by white matter abnormalities in the central nervous system that produce neurological symptoms. (genomeweb.com)
  • In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. (uzh.ch)
  • Conversely, all mutations identified in FFM were missense mutations affecting uncharged amino acids. (nih.gov)
  • Ouvrier, R., Geevasingha, N. & Ryan, M. M. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. (mda.org)
  • This identified 14 non-coding de novo mutations affecting a 42bp conserved region encompassed by a regulatory. (exeter.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)
  • Mutations of SLC26A4 gene are one of the factors, which are at the base of congenital hearing losses. (nel.edu)
  • Bovine spinal dysmyelination (BSD) is a recessive congenital neurodegenerative disease in cattle ( Bos taurus ) characterized by pathological changes of the myelin sheaths in the spinal cord. (au.dk)
  • We demonstrated that these mutations resulted in expression of HK1 in the pancreatic beta-cells causing inappropriate insulin secretion and congenital hyperinsulinism. (exeter.ac.uk)
  • R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family. (illumina.com)
  • CONCLUSIONS: We report a novel KCNV2 mutation in a consanguineous family. (bvsalud.org)
  • PCR and Sanger sequencing were used to confirm mutations in and screen other family members where they were available. (molvis.org)
  • Direct sanger sequencing of KCNV2 was applied to confirm the mutation. (bvsalud.org)
  • No correlation was found between BRAF mutation and patient's age and sex and particular stage in clinical staging systems (TNM Staging, the University of Chicago clinical class, and Ohio State University Staging). (nel.edu)
  • Recently, mutations of the photoreceptor cell-specific ATP binding transporter gene (ABCR) have been reported in Stargardt disease. (nih.gov)
  • V600E mutation in BRAF gene was detected in 12/25 (48%) cases of PTC. (nel.edu)
  • Mutations that have been discovered to date are not responsible for all cases of Cystinuria in cats. (eurovetgene.com)
  • IDH1 mutations 95% of cases. (who.int)
  • Our analyses of IDH1 mutations in for R132C mutations in astrocytes or glioblastomas from a population- precursor cel s that already carry a based study (407 cases) showed that germline TP53 mutation. (who.int)
  • SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. (nih.gov)
  • 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)
  • Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. (uzh.ch)
  • Witsberger E, Marmorstein A , Pulido J. Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. (mayo.edu)
  • Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations. (cdc.gov)
  • from April 2008) after acquisition of a TP53 mutation or loss of 1p/19q, suggesting that IDH1 We assessed IDH1 mutations in brain mutations are very early events in tumors diagnosed in patients from 3 gliomagenesis and may affect a common families with Li-Fraumeni syndrome. (who.int)