An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.

Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. The affected individuals of this family exhibited pre-lingual, se...

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Bibliographic Details
Main Authors: Thomas J Jaworek, Elodie M Richard, Anna A Ivanova, Arnaud P J Giese, Daniel I Choo, Shaheen N Khan, Sheikh Riazuddin, Richard A Kahn, Saima Riazuddin
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3764207?pdf=render

Internet

http://europepmc.org/articles/PMC3764207?pdf=render

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