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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

Authors :
Ur Rehman, Atteeq
Morell, Robert J.
Belyantseva, Inna A.
Khan, Shahid Y.
Boger, Erich T.
Shahzad, Mohsin
Ahmed, Zubair M.
Riazuddin, Saima
Khan, Shaheen N.
Riazuddin, Sheikh
Friedman, Thomas B.
Source :
American Journal of Human Genetics. March 12, 2010, Vol. 86 Issue 3, p378, 11 p.
Publication Year :
2010

Abstract

A study uses targeted capture and next-generation sequencing to identify the gene which causes nonsyndromic deafness DFNB79. Results reveal that a nonsense mutation in the gene C9orf75, also called TPRN, which encodes the protein taperin, is responsible for the nonsyndromic deafness DFNB79.

Details

Language :
English
ISSN :
00029297
Volume :
86
Issue :
3
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.224286702