Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.

ABSTRACT:

Background

Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified.

Methods

We performed whole-exome sequencing on DNA samples from the AUNX1 family and another small phenotypically similar but unrelated ANSD family.

Results

We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1

SUBMITTER: Zong L 

PROVIDER: S-EPMC4518735 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature