title: A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
abstract: TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA) or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS), we screened 42 genes known to be responsible for human deafness in a Chinese family (Family 3187) in which common deafness mutations had been ruled out as the cause, and identified a novel mutation, c.257-262CCTTTC>GCT (p. Ser86Cys; p. Pro88del) in exon 3 of the TECTA gene in the proband and his extended family. All affected individuals in this family had moderate down-sloping hearing loss across all frequencies. To our knowledge, this is the second TECTA mutation identified in Chinese population. This study demonstrates that targeted genomic capture, MPS, and barcode technology might broaden the availability of genetic testing for individuals with undiagnosed DFNA.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China ; Department of Otorhinolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Su
authors.affiliation: Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Wen-Xue
authors.initials: WX
authors.lastname: Tang
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China ; Department of Otorhinolaryngology, the Second Artillery General Hospital, Beijing, P. R. China.
authors.forename: Xue
authors.initials: X
authors.lastname: Gao
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Fei
authors.initials: F
authors.lastname: Yu
authors.affiliation: Department of Otorhinolaryngology, the First Affiliated Hospital of PLA General Hospital, Beijing, P. R. China.
authors.forename: Zhi-Yao
authors.initials: ZY
authors.lastname: Dai
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Jian-Dong
authors.initials: JD
authors.lastname: Zhao
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Fei
authors.initials: F
authors.lastname: Ji
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Sha-Sha
authors.initials: SS
authors.lastname: Huang
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Yong-Yi
authors.initials: YY
authors.lastname: Yuan
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China ; Department of Otorhinolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China.
authors.forename: Ming-Yu
authors.initials: MY
authors.lastname: Han
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China ; Department of Otorhinolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China.
authors.forename: Yue-Shuai
authors.initials: YS
authors.lastname: Song
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Yu-Hua
authors.initials: YH
authors.lastname: Zhu
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Dong-Yang
authors.initials: DY
authors.lastname: Kang
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China.
authors.forename: Dong-Yi
authors.initials: DY
authors.lastname: Han
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, P. R. China ; Department of Otorhinolaryngology, Hainan Branch of PLA General Hospital, Sanya, P. R. China.
authors.forename: Pu
authors.initials: P
authors.lastname: Dai
mesh_terms: D044466:Asian People / Q000235:genetics; D001301:Audiometry, Pure-Tone; D002681:China; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; C491350:TECTA protein, human