Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant non-syndromic hearing loss.

Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant non-syndromic hearing loss.

J Gene Med. 2017 Feb 21;:

Authors: Kim BJ, Kim AR, Han JH, Lee C, Oh DY, Choi BY

Abstract
BACKGROUND: Pathogenic variants of MYH14 have been known to be associated-in either a syndromic or non-syndromic manner-with hearing loss. Interestingly, all reported cases to date of MYH14-related non-syndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset.
METHODS: In this study, targeted resequencing (TRS) of known deafness genes was performed to identify the causative variant in two multiplex families segregating AD inherited hearing loss.
RESULTS: TRS uncovered two novel variants of MYH14 (c.A572G: p.Asp191Gly in the myosin head domain and c.C73T:p.Gln25* in exon 2) from two multiplex deafness Korean families. Notably, both probands showed phenotypes of congenital or prelingual severe hearing loss. It is remarkably uncommon to encounter such a severe-to-profound, prelingual, autosomal dominant (AD) hearing loss. Given that the first variant, p. Asp191Gly, was the first documented missense allele discovered in the myosin head domain of this gene related to either congenital or prelingual severe non-syndromic hearing loss and that the second variant, p. Gln25*, was leading to a null allele, severer phenotypes from our probands may have been due to either genotype-phenotype correlation or genetic backgrounds, or both.
CONCLUSIONS: Herein, we report that MYH14 can manifest as non-syndromic prelingual severe SNHL in an AD fashion in Koreans. Our study suggests that further genetic studies of similar patients should consider MYH14 as a causative gene, and cochlear implantation during infant or early childhood should be indicated for these patients with certain MYH14 pathogenic variants.

PMID: 28221712 [PubMed - as supplied by publisher]

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