Auditory neuropathy

Definition:

Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy. Recently, it has been reported that an autosomal recessive auditory neuropathy and optic atrophy (ANOA) is caused by mutations in the FDXR gene.

References:

[1]. Antoine Paul, et al. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. Am J Hum Genet. 2017 Oct 5;101(4):630-637. [Content Brief]

[2]. Cynthia J Schoen, et al. Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13396-401. [Content Brief]

[3]. T B Kim, et al. A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. J Med Genet. 2004 Nov;41(11):872-6. [Content Brief]

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