None of the authors have a conflict of interest to declare.
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y
Article first published online: 4 OCT 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 5, pages 477–481, May 2013
How to Cite
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y: the first reported DFNA9 mutation in the intervening domain of COCH., , , , , .
- Issue published online: 5 APR 2013
- Article first published online: 4 OCT 2012
- Accepted manuscript online: 29 AUG 2012 11:30AM EST
- Manuscript Revised: 27 AUG 2012
- Manuscript Accepted: 27 AUG 2012
- Manuscript Received: 4 JUN 2012
- National Natural Science Foundation of China. Grant Number: 30872864
- autosomal dominant 9;
- COCH gene;
- novel mutation;
- whole exome sequencing
We report the genetic analysis of a Chinese family with autosomal dominant non-syndromic progressive sensorineural hearing loss. Taking advantage of next-generation high-throughput DNA sequencing technology, we combined whole exome capture sequencing with Sanger direct sequencing. A novel missense mutation in the coagulation factor C homolog (COCH) gene was identified in a consanguineous Chinese family. This missense mutation in the seventh exon (c.889G>A; p.C162Y) of COCH is most probably a disease-causing mutation and it segregates with the disease. The mutation is not found in the single nucleotide polymorphism (SNP) database, the yhSNP database, the 1000 genomes SNP database or in matching normal controls. It is the first reported autosomal dominant nonsyndromic sensorineural deafness 9 (DFNA9) mutation outside the limulus factor C, cochlin and late gestation lung protein and von Willebrand factor 2 domain, i.e. the first reported DFNA9 mutation in the intervening domain of cochlin, encoded by the COCH gene. In the future, we will focus on functional studies of this mutation.