Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss
نویسندگان
چکیده
منابع مشابه
Digenic inheritance in medical genetics
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are only dozens of human disease phenotypes with evidence for DI in some pedigrees. The advent of high-throughput sequencing (HTS) has made it simpler to identify monogenic disease causes and could sim...
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Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria t...
متن کاملFurther support for digenic inheritance in Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by the primary features of obesity, retinal dystrophy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS also have an increased risk for developing diabetes mellitus, hypertension, and congenital heart disease. Seven loci have been mapped with evidence of at least one addi...
متن کاملGenetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
Background Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity. We aimed to determine the contribution of three common DFNB loci (DFNB4, DFNB28, and DFNB93), and mutation analysis of Gap Junction Beta-2 gene (GJB2) and GJB3 genes in ARNSHL subjects in southern Iran. Methods Thirty-six large ARN...
متن کاملIdentification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population
Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c....
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ژورنال
عنوان ژورنال: European Archives of Oto-Rhino-Laryngology
سال: 2015
ISSN: 0937-4477,1434-4726
DOI: 10.1007/s00405-015-3782-7