摘要Waardenburg综合征是一种少见的遗传性听力一色素异常综合征.具有皮肤脱色素改变、额部白发或早年白发、眼虹膜及眼底色素异常、先天性感音神经性耳聋等临床特征.该病具有临床表型差异性和遗传异质性,依据不同的表现和伴发异常,Waardenburg综合征可分为4型.研究证实.配对盒3、小眼畸形相关转录因子、性别决定区域相关转录因子10、Snail相关锌指蛋白转录因子、内皮素3和内皮素受体B基因突变可引起神经嵴细胞迁徙和黑素细胞增殖等过程的异常,从而发生Waardenburg综合征.

abstractsWaardenburg syndrome(WS)is a rare hereditary auditory-pigmentary syndrome.It is usually characterized by pigmentary disturbances of the skin.hair,iris and eyeground as well as congenital sensorineural hearing loss.It is phenotypically and genetically heterogeneous.Based on the complications,it is classified into 4 types,WS1,WS2,WS3 and Ws4.There is evidence that the mutations of genes like paired box gene 3(PAX3),micro-phthalmia.associated transcription factor(MITF),(sex determining region Y)-box 10 (SOX10).Snail-related zinc-finger transcription factor(Slug),endothelin-3(EDN3)and endothelin receptor B(EDNRB)could cause abnormality in the migration of neural-crest cells and proliferation of melanocytes,which subsequently leads to the development of WS.