A novel mutation of MITF gene in a family of Waardenburg syndrome type 2

【作者】 史云芳； 李晓洲； 琚端； 李岩； 张秀玲； 张颖；

【机构】 天津医科大学总医院；

【摘要】 目的 To identify the genetic cause of three WS patients in a family. 方法 Six genes were captured and sequenced using next-generation sequencing technology. 结果 A novel heterozygous MITF mutation p.Δ315 Argisolated on exon 8 was found and predicted it as a candidate disease-causing mutation to affect the normal structure and function of the enzyme. 结论 WSis an autosomal dominant disorder with varying degrees of sensorineural hearing loss.Si x genes have been identified to be associated with the different types of WS.更多还原

【Abstract】 目的 To identify the genetic cause of three WS patients in a family. 方法 Six genes were captured and sequenced using next-generation sequencing technology. 结果 A novel heterozygous MITF mutation p.Δ315 Argisolated on exon 8 was found and predicted it as a candidate disease-causing mutation to affect the normal structure and function of the enzyme. 结论 WSis an autosomal dominant disorder with varying degrees of sensorineural hearing loss.Si x genes have been identified to be associated with the different types of WS.更多还原