TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss. Issue 7 (6th May 2014)

• Record Type: Journal Article
• Authors: Azaiez, Hela; Booth, Kevin T.; Bu, Fengxiao; Huygen, Patrick; Shibata, Seiji B.; Shearer, A. Eliot; Kolbe, Diana; Meyer, Nicole; Black‐Ziegelbein, E. Ann; Smith, Richard J.H.
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 819
• Page End: 823
• Publication Date: 2014-05-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22557
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22557-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>After excluding mutations in all genes implicated in non‐syndromic hearing loss, we completed segregation mapping and whole exome sequencing on 7 and 3 persons, respectively. WES data were hard filtered to identify 46 variants shared by the 3 affecteds, only one of which mapped to a segregating genomic interval. The Ser178Leu variant in <italic>TBC1D24</italic> is highly conserved across species. The transcribed gene is expressed in inner and outer hair cells in the P2 mouse cochlea (green; actin, red; DAPI, blue). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4vwk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>