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© Research
Publication : Journal of medical genetics

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Journal of medical genetics - 18 May 2015

Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q

Link to Pubmed [PMID] – 25986071

J. Med. Genet. 2015 May;

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. http://www.ncbi.nlm.nih.gov/pubmed/25986071