title: Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).
abstract: Large vestibular aqueduct syndrome (LVAS) is a type of hearing loss characterized by an autosomal recessive inheritance. LVAS has been shown to be associated with mutations in SLC26A4 gene. In the present study, we report the clinical, genetic and molecular characterization of a Chinese family with LVAS. By using the targeted sequence capture and next-generation sequencing, we identified heterozygous mutations of SLC26A4 p.I188T (c.563T > C), p.L582LfsX4 (c.1746 delG) and p.E704K (c.2110G > A) in the affected individual of this family, of which SLC26A4 p.E704K is a novel mutation associated with LVAS. By tracing the transmission and functional prediction of these mutations in the pedigree, the heterozygous mutations of p.I188T, p.L582LfsX4 and p.E704K in SLC26A4 gene were responsible for the LVAS of the affected individual. This is the first case of LVAS caused by these mutations.
authors.affiliation: Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunnan, China; Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
authors.forename: Yunlong
authors.initials: Y
authors.lastname: Li
authors.affiliation: Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunnan, China; Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China. Electronic address: bszhu@aliyun.com.
authors.forename: Baosheng
authors.initials: B
authors.lastname: Zhu
authors.affiliation: Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunnan, China; Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Su
authors.affiliation: Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunnan, China; Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
authors.forename: Yifei
authors.initials: Y
authors.lastname: Yin
authors.affiliation: Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunnan, China; Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
authors.forename: Fangqing
authors.initials: F
authors.lastname: Yu
mesh_terms: D044466:Asian People / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities*
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters
keywords: Hearing loss; Large vestibular aqueduct syndrome (LVAS); Mutations; SLC26A4 gene