An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population
Publish place: 2nd International & 10th National Neurogenetic Congress,
Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
NGCMED10_157
تاریخ نمایه سازی: 16 تیر 1397
Abstract:
Autosomal-recessive genes are responsible for about 80% of the hereditary non-syndromic hearing loss (NSHL)cases. In Iran, due to consanguineous marriages, NSHL is the second most frequent disability after intellectualdisability, occurring one in 116 individuals. Enormous heterogeneity in the genetic pathology of hearing losscauses a major challenge in identification of responsible genes. In Iran, GJB2 is responsible for the most cases ofpre-lingual and non-syndromic hearing loss (with frequency of 16.7%) which followed by other genes with lowerfrequency. Although several studies have indicated that a large proportion of both syndromic and non-syndromichearing loss in Iranian populations are caused by defects in just a few genes, new detection strategies such asNGS (Next-generation sequencing) have increased the spectrum of responsible mutations. However, by applyingthis strategy in Iran patients screening, the role of lots of novel related genes have been reported.
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Authors
Tohid Ghasemnejad
Department of Medical Genetic, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
Mahmoud Shekari Khaniani
Department of Medical Genetic, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
Sima Mansoori Derakhshan
Department of Medical Genetic, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran