Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
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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Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...
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It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.032615