Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
نویسندگان
چکیده
منابع مشابه
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
BACKGROUND Allele variants of COL11A2, encoding collagen type XI alpha2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype. OBJECTIVE To describe a genome-wide scan carried out on a consanguineous Iranian family segregating ARNSHL. RESULTS Genotyping data identified a novel locus for ARNSHL o...
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MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to Septemb...
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The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutatio...
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ژورنال
عنوان ژورنال: Molecular Genetics and Genomics
سال: 2015
ISSN: 1617-4615,1617-4623
DOI: 10.1007/s00438-015-0995-9