Hearing loss in Waardenburg syndrome: a systematic review
作者： J. Song , Y. Feng , F.R. Acke , P. Coucke , K. Vleminckx
DOI: 10.1111/CGE.12631
关键词:
摘要: Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hair, skin iris. Classifications exist based on phenotype genotype. The auditory inconsistently reported among the different types causal genes, urging need for an up-to-date literature overview this particular topic. We performed systematic review in search articles describing features WS patients along with associated Prevalences HL were calculated correlated genes WS. Seventy-three included, 417 individual patients. was found 71.0% predominantly bilateral sensorineural. Prevalence clinical significantly differed (WS1: 52.3%, WS2: 91.6%, WS3: 57.1%, WS4: 83.5%). Mutations SOX10 (96.5%), MITF (89.6%) SNAI2 (100%) are more frequently impairment than other mutations. Of interest, distinct disease-causing able to better predict compared Consequently, it important confirm diagnosis molecular analysis order optimally inform about risk HL.
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