Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing.

ABSTRACT:

Objective

Auditory neuropathy spectrum disease (ANSD) is caused by both environmental and genetic causes and is defined by a failure in peripheral auditory neural transmission but normal outer hair cells function. To date, 13 genes identified as potentially causing ANSD have been documented. To study the etiology of ANSD, we collected 9 probands with ANSD diagnosed in the clinic and performed targeted next-generation sequencing.

Methods

Nine probands have been identified as ANSD based on the results of the ABR tests and DPOAE/CMs. Genomic DNA extracted from their peripheral blood was examined by next-generation sequencing (NGS) for a gene panel to identify any potential causal variations. For candidate pathogenic genes, we performed co-segregation among all family members of

SUBMITTER: Sun L 

PROVIDER: S-EPMC9772003 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature