An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.

ABSTRACT:

Background

Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.

Objective

This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.

Methods

A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled. Exome sequencing and Sanger sequencing were applied to identify the genetic basis for ANSD in this family.

Results

Exome sequencing detected a c.1236delC variant of the otoferlin gene in an apparently homozygous state. Sanger sequencing confirmed that the variant co-segregating with the phenotype of hearing impairments in this family. The variant was not detected in 200 healthy controls. The c.1

SUBMITTER: Xia H 

PROVIDER: S-EPMC6030853 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature