Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next-generation sequencing.

ABSTRACT:

Background

Genetic components contribute significantly to the cause of hearing loss. Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. For families who had given birth to two nonsyndromic deaf children in succession, it seems that their deafness was highly related to genetics.

Objectives

This study aimed to disclose the genetic causes of the subjects from the four Chinese families with two nonsyndromic deaf children in succession who failed to find the genetic etiology of the hearing loss by common deafness genetic screening (GJB2, GJB3, SLC26A4, and MT-RNR1, including 20 hot variants in 4 genes).

Methods

Targeted next-generation sequencing (NGS) of 127 known deafness genes was performed in probands of four families, followed by a series of

SUBMITTER: Xiao C 

PROVIDER: S-EPMC8123758 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature