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Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS)

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机构： [a]Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming Universityof Science and Technology, Kunming, Yunnan, China [b]Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China [*a]Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming, Yunnan, 650032, China

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关键词： Hearing loss Large vestibular aqueduct syndrome (LVAS) Mutations SLC26A4 gene

摘要：

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. © 2016 Elsevier Ireland Ltd

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出版当年[2016]版：

大类 | 4 区医学

小类 | 4 区耳鼻喉科学 4 区儿科

最新[2023]版：

大类 | 4 区医学

小类 | 3 区儿科 4 区耳鼻喉科学

JCR分区：

出版当年[2015]版：

Q3 PEDIATRICS Q3 OTORHINOLARYNGOLOGY

最新[2023]版：

Q3 OTORHINOLARYNGOLOGY Q3 PEDIATRICS

影响因子： 1.2 最新[2023版] 1.5 最新五年平均 1.125 出版当年[2015版] 1.316 出版当年五年平均 1.186 出版前一年[2014版] 1.159 出版后一年[2016版]

第一作者：

第一作者机构： [a]Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming Universityof Science and Technology, Kunming, Yunnan, China [b]Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China

通讯作者：

通讯机构： [a]Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming Universityof Science and Technology, Kunming, Yunnan, China [b]Genetic Diagnosis Center, Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China [*a]Genetic Diagnosis Center, The First People's Hospital of Yunnan Province, Kunming, Yunnan, 650032, China

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Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS)

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