Variant analysis of 92 Chinese Han families with hearing loss

Xiaohua Jin,Lisha An,Chuan Zhang,Huafang Gao,Pu Dai,Shasha Huang,Xu Ma

doi:10.1186/s12920-022-01158-3

Abstract

BackgroundHearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for the patient’s family.MethodsWe undertook pedigree analysis in 92 Chinese non-syndromic HL patients by targeted next-generation sequencing and Sanger sequencing.ResultsAmong the 92 HL patients, 18 were assigned a molecular diagnosis with 33 different variants in 14 deafness genes. Eighteen of the variants in 12 deafness genes were novel. Variants in TMC1, CDH23, LOXHD1 and USH2A were each detected in two probands, and variants in POU3F4, OTOA, GPR98, GJB6, TRIOBP, SLC26A4, MYO15A, TNC, STRC and TMPRSS3 were each detected in one proband.ConclusionOur findings expand the spectrum of deafness gene variation, which will inform genetic diagnosis of deafness and add to the theoretical basis for the prevention of deafness.

Highlights

Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity
Variant analysis Among 92 probands analyzed, we determined a genetic diagnosis in 18, and all the 92 probands were from nonconsanguineous families
Fourteen deafness gene variants were detected. Those in TMC1, CDH23, LOXHD1 and USH2A were each detected in two probands, and those in 10 other deafness genes were each detected in one proband (Table 2)

Summary

Introduction

Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for the patient’s family. Hearing loss (HL) is the most frequent sensory deficit in humans, with a prevalence of approximately 1/1000 in newborns [1, 2]. The genetic diagnosis of NSHL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for the patient’s family [5, 6]. In China, nine variants in four genes are the most common causes of NSHL, including c.235delC (18.3%), c.299_300delAT (5.6%), c.176del (1.8%) and c.35delG (0.14%) of GJB2; c.919-2A>G (15.4%) and c.2168A>G (1.08%) of SLC26A4; m.1555A>G (1.76%)

Methods

Results

Discussion

Conclusion