Shi Yunfang, Li Xiaozhou, Ju Duan, Li Yan, Zhang Xiuling, Zhang Ying
Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
Exp Ther Med. 2016 Apr;11(4):1516-1518. doi: 10.3892/etm.2016.3042. Epub 2016 Feb 1.
Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 (), microphthalmia-associated transcription factor (), endothelin 3 (), endothelin receptor type B (), SRY (sex determining region Y)-box 10 () and snail homolog 2 ()] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.
瓦登伯革氏综合征（WS）是一种常染色体显性疾病，伴有不同程度的感音神经性听力损失，以及毛发、皮肤和虹膜色素沉着。WS有四种类型（WS1 - 4），各有不同特征。已确定六个基因[配对盒基因3（PAX3）、小眼相关转录因子（MITF）、内皮素3（EDN3）、内皮素B型受体（EDNRB）、SRY（性别决定区Y）-盒10（SOX10）和蜗牛同源物2（SNAI2）]中的突变与不同类型相关。本病例报告描述了对来自一个家族的三名WS2患者进行基因突变调查的情况。提取了基因组DNA，并使用下一代测序技术对六个与WS相关的基因进行测序。除了PAX3、EDNRB和SOX10中的突变外，还在第8外显子上鉴定出一个新的杂合突变，p.Δ315Arg（c.944_946delGAA）。预计这是一个可能影响该酶结构和功能的候选致病突变。
