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Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

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收录情况： ◇ SCIE

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机构： [a]Department of Otolaryngology, Head & Neck Surgery, Kunming Children’s Hospital, Kunming, Yunnan, China [b]Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union of Medical College, Kunming, Yunnan, China [c]Department of Clinical Laboratory, Kunming Children’s Hospital, Kunming, Yunnan, China [d]Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan, China

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关键词： Waardenburg syndrome type II Hereditary deafness SOX10 gene Gene mutation

摘要：

Objective: Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of a Chinese WS child patient. Methods: A Chinese WS child was collected for clinical data collection by questionnaire survey. DNA samples of proband and his parents were extracted from peripheral blood samples. Six candidate genes were sequenced by the Trusight One sequencing panel on the illumina NextSeq 500 platform. Results: A novel nonsense heterozygous mutation was found in the coding region of exon 2 in the SOX10 gene of proband. The novel nonsense heterozygous mutation could cause the replacement of the 55th lysine codon by stop codon (484T > C, C142R) and further more possibly cause terminating the protein translation in advance. However, both proband's parents had no mutation of genes above mentioned. Conclusion: The gene mutation of SOX10 [NM_006941.3 c.163A > T] is a novel nonsense mutation. No record of this mutation has been found in dbSNP, HGMD, 1000 Genomes Project, ClinVar and ESP6500 databases. It meets the condition of PS2 of strong evidence in 2015 ACMG Standards and Guidelines. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

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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]

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第一作者机构： [a]Department of Otolaryngology, Head & Neck Surgery, Kunming Children’s Hospital, Kunming, Yunnan, China

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通讯作者：

通讯机构： [d]Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan, China [*1]Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan, China

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