Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.

ABSTRACT:

Background

Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human defects. Autosomal recessive inheritance accounts for a huge percentage of familial cases. Next-generation sequencing (NGS) is a powerful molecular diagnostic strategy for NSHL. The combination of a microarray gene chip and NGS can better delineate the etiology and genetic cause of deafness in many cases.

Methods

One hundred and thirty-one unrelated students with NSHL who attend a special education school in Yunnan Province were recruited. Firstly, four common deafness-related genes (GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA) were evaluated for mutations using a microarray kit. Furthermore, 227 known human deafness genes were sequenced to identify the responsi

SUBMITTER: Bai X 

PROVIDER: S-EPMC6687625 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature