title: Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
abstract: It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA). The prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established in many ethnic groups, but the data from Mainland Chinese patients with deafness and EVA remain poor. In this report, 15 patients from 13 unrelated Chinese families with deafness and EVA were analyzed for SLC26A4 using direct sequencing. A total of 15 pathogenic mutations were observed in 11 unrelated families, 4 of which were novel. One mutation, IVS7-2A>G, was most common, accounting for 22.3% (5/22) of all the mutant alleles, and H723R was infrequent. To date, a total of 23 mutations have been reported among the Chinese, 13 of which were unique. In conclusion, EVA could be a radiological marker for SLC26A4 analysis among Mainland Chinese hearing-loss patients, and the SLC26A4 mutation spectrum in the Chinese was different from other reported populations.
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Hao
authors: H
authors: Hu
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.|Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|Solution Oriented Research of Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan.
authors: Lingqian
authors: L
authors: Wu
authors: Department of Otorhinolaryngology, Xiangya Hospital, Central South University, Changsha, China.
authors: Yong
authors: Y
authors: Feng
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Qian
authors: Q
authors: Pan
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Zhigao
authors: Z
authors: Long
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Juan
authors: J
authors: Li
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Heping
authors: H
authors: Dai
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Kun
authors: K
authors: Xia
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China. liangdesheng@cnlmg.com.|Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. liangdesheng@cnlmg.com.|Solution Oriented Research of Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan. liangdesheng@cnlmg.com.
authors: Desheng
authors: D
authors: Liang
authors: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.|Solution Oriented Research of Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan.
authors: Norio
authors: N
authors: Niikawa
authors: National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
authors: Jiahui
authors: J
authors: Xia
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002681:China; D015331:Cohort Studies; D005260:Female; D006042:Goiter / Q000209:etiology / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities*
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters