A Dominant Mutation in the Stereocilia‐Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment. Issue 7 (6th May 2014)

• Record Type: Journal Article
• Authors: Zhang, Luping; Hu, Lingxiang; Chai, Yongchuan; Pang, Xiuhong; Yang, Tao; Wu, Hao
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 814
• Page End: 818
• Publication Date: 2014-05-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22558
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22558-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>By linkage analysis and whole exome sequencing, we identified a p.Ser178Leu heterozygous mutation of <italic>TBC1D24</italic> as a probable cause for the late‐onset, progressive, non‐syndromic hearing impairment in a dominant deaf family. In perinatal mouse cochlea, we detected a restricted expression of <italic>Tbc1d24</italic> in the stereocilia of the hair cells as well as in the spiral ganglion neurons. Our findings may shed new light on the specific function of <italic>TBC1D24</italic> in the inner ear. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4wvj" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>