Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss
نویسندگان
چکیده
منابع مشابه
Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non-syndromic hearing loss
Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analys...
متن کاملExome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss
Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study, we identified a pathogenic missense mutation located in the variable region of the EYA4 gene for ...
متن کاملIdentification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
PURPOSE To identify the genetic defect in a four-generation Croatian family presenting with autosomal dominant cataract. METHODS Genome-wide linkage analysis with 250K single nucleotide polymorphism (SNP) arrays was performed using DNA from one unaffected and seven affected individuals. Mutation screening of candidate genes was performed by bidirectional Sanger sequencing. RESULTS Evidence ...
متن کاملEvaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss
EYA4 and GRHL2 encode transcription factors that play an important role in regulating many developmental stages. Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have been reported worldwide. However, these genes have been reported in few studies of the Korean population. In this study, we performed a genetic ana...
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We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites placed the chromosome 14 candidate regi...
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ژورنال
عنوان ژورنال: International Journal of Molecular Medicine
سال: 2014
ISSN: 1107-3756,1791-244X
DOI: 10.3892/ijmm.2014.1939