A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene,Molecular Genetics & Genomic Medicine

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A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-12 , DOI: 10.1002/mgg3.1520
Shuzhi Yang _{1,

2,

3} , Cuicui Wang ₄ , Chengyong Zhou _{1,

2,

3} , DongYang Kang ₅ , Xin Zhang ₅ , Huijun Yuan ₄

Affiliation

Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell‐derived melanocytes. At present, four subtypes of WS have been defined, which are caused by seven genes. Waardenburg syndrome type 2 (WS2) is one of the most common forms. Two genes, MITF and SOX10, have been found to be responsible for majority of WS2.

更新日期：2020-10-12

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