A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Xueling Wang; Longhao Wang; Hu Peng; Tao Yang; Hao Wu

doi:10.1155/2018/7272308

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

Neural Plast. 2018 Apr 16:2018:7272308. doi: 10.1155/2018/7272308. eCollection 2018.

Authors

Xueling Wang^{1

2

3}, Longhao Wang^{1

2

3}, Hu Peng^{1

2

3

4}, Tao Yang^{1

2

3}, Hao Wu^{1

2

3}

Affiliations

¹ Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
² Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
³ Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, China.
⁴ Department of Otolaryngology-Head and Neck Surgery, Changzheng Hospital, Second Military Medical University, Shanghai, China.

Abstract

Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing. SNP genotyping analysis suggested that those two families were not closely related. Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in ILDR1 may be a relatively frequent mutation for DFNB42 in Chinese Hans.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
China
Deafness / genetics*
Genetic Predisposition to Disease*
Hearing Loss, Sensorineural / genetics*
High-Throughput Nucleotide Sequencing
Humans
Mutation
Pedigree
Polymorphism, Single Nucleotide
Receptors, Cell Surface / genetics*

Substances

ILDR1 protein, human
Receptors, Cell Surface

Supplementary concepts

Deafness, Autosomal Recessive 42
Nonsyndromic Deafness