Premium
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y
Author(s) -
Gao J,
Xue J,
Chen Li,
Ke X,
Qi Y,
Liu Y
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12006
Subject(s) - missense mutation , genetics , exome sequencing , dbsnp , sanger sequencing , mutation , biology , single nucleotide polymorphism , exome , gene , genotype
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.