Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy.

ABSTRACT:

Background

Auditory neuropathy (AN) is a hearing disorder caused by the failure of inner hair cells, auditory nerve synapses and/or auditory nerves. With the development of high-throughput sequencing technology, the genetic factors of AN have been revealed, and genetic testing has become an important tool for identifying different types of AN.

Case description

To study the genetic cause of nonsyndromic auditory neuropathy in a Chinese family. The family was from Henan Province with three affected individuals. The audiological examinations were performed on the affected individuals, and whole-exome sequencing was carried out on the proband. The suspected pathogenic variants screened by the bioinformatic analysis were validated using Sanger sequencing in the family members. We

SUBMITTER: Jiang L 

PROVIDER: S-EPMC9705581 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature