An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population

作者：Ghasemnejad Tohid; Khaniani Mahmoud Shekari; Zarei Fatemeh; Farbodnia Mina; Derakhshan Sima Mansoori

来源：International Journal of Pediatric Otorhinolaryngology, 2017, 97: 113-126.

DOI：10.1016/j.ijporl.2017.04.007

• GJB2
• Hearing loss
• NSHL
• Consanguineous marriages
• Genetic diagnosis

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 intellectual disability, occurring one in 16 individuals. Enormous heterogeneity in the genetic pathology of hearing loss causes a major challenge in identification of responsible genes. In Iran, GJB2 is responsible for the most cases of pre-lingual and non-syndromic hearing loss (with frequency of 16.7%) which followed by other genes with lower frequency. Although several studies have indicated that a large proportion of both syndromic and non-syndromic hearing loss in Iranian populations are caused by defects in just a few genes, new detection strategies such as NGS (Next-generation sequencing) have increased the spectrum of responsible mutations. However, by applying this technique in Iran patients screening, the role of lots of novel related genes have been reported. In this review, we aim to describe function of these genes and their contribution to non-syndromic genetic hearing loss in Iranian population and we classify the genes by their functions.

• 出版日期2017-6