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Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative...

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Bibliografiske detaljer
Udgivet i:Appl Clin Genet
Main Authors: Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D
Format: Artigo
Sprog:Inglês
Udgivet: Dove Medical Press 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5012844/
https://ncbi.nlm.nih.gov/pubmed/27621663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S113828
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