Evidence suggesting digenic inheritance of
Waardenburg syndrome type II with ocular
albinism.
期刊名称： American Journal of Medical Genetics Part A
作者： Pei-Wen Chiang,Elaine Spector,Tracy L McGregor
年份： 2010年
期号： 第12期
关键词： oculocutaneous albinism;OCA1;OCA3;pigmentation;Waardenburg
syndrome;MITF;ocular albinism
摘要：Waardenburg syndrome (WS) is a ries of auditory-pigmentary disorders inherited in an autoso
mal dominant manner. In most patients, WS2 results from mutations in the MITF gene. MITF encodes a basic helix-loop-helix transcription factor that activates transcription of tyrosina and other melanocyte proteins. The clinical prentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the prence of modifiers. One family with a molecular diagnosis of WS2 co-gregating with OA has previously been reported. A digenic mutation mechanism including both a MITF mutation and the TYR R402Q hypomorphic allele was propod to be the cau of OA in this family. Here, we prent a cond WS2 family with OA and provide evidence suggesting the TYR R402Q
内容由中国教育图书进出口有限公司引进
