title: Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.
abstract: DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in theCOCH(coagulation factor C homology) gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain ofCOCHcosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening ofCOCHin age related hearing loss with vestibular dysfunctions.
authors.affiliation: Otorhinolaryngology Department, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200031, China; Key Laboratory of Hearing Medicine of National Health and Family Planning Commission, Shanghai 200031, China.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Gu
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital, Xiamen University, Xiamen, China.
authors.forename: Wenling
authors.initials: W
authors.lastname: Su
authors.affiliation: Key Laboratory for Developmental Genes and Human Disease, Ministry of Education, Institute of Life Sciences, Southeast University, Nanjing 210096, China; Co-Innovation Center of Neuroregeneration, Nantong University, Nantong 226001, China.
authors.forename: Mingliang
authors.initials: M
authors.lastname: Tang
authors.affiliation: Otorhinolaryngology Department, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200031, China; Key Laboratory of Hearing Medicine of National Health and Family Planning Commission, Shanghai 200031, China; Central Laboratory, Affiliated Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
authors.forename: Luo
authors.initials: L
authors.lastname: Guo
authors.affiliation: Otorhinolaryngology Department, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200031, China; Key Laboratory of Hearing Medicine of National Health and Family Planning Commission, Shanghai 200031, China; Central Laboratory, Affiliated Eye and ENT Hospital, Fudan University, Shanghai 200031, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Otorhinolaryngology Department, Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200031, China; Key Laboratory of Hearing Medicine of National Health and Family Planning Commission, Shanghai 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China; The Institutes of Brain Science and the Collaborative Innovation Center for Brain Science, Fudan University, Shanghai, China; Shanghai Engineering Research Center of Cochlear Implant, Shanghai 200031, China.
authors.forename: Huawei
authors.identifier: 0000-0001-5338-6910
authors.initials: H
authors.lastname: Li
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D000072417:Protein Domains / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C110668:COCH protein, human; D016326:Extracellular Matrix Proteins