title: Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
abstract: 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.
authors.affiliation: Department of Otolaryngology, Head and Neck Surgery, Peking University First Hospital, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Gao
authors.forename: J
authors.initials: J
authors.lastname: Xue
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.forename: X
authors.initials: X
authors.lastname: Ke
authors.forename: Y
authors.initials: Y
authors.lastname: Qi
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003241:Consanguinity; D059472:Exome; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D023061:Gene Order; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
chemical_list: C110668:COCH protein, human; D016326:Extracellular Matrix Proteins