INSERM Unité U955, Département de Génétique, Laboratoire de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.
Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling.
瓦登伯革综合征（WS）的特征是色素异常的合并出现，包括皮肤和毛发的色素脱失斑、鲜明的蓝色眼睛或虹膜异色、感觉神经性听力损失。然而，在亚组患者中还发现了其他特征，如内眦移位、四肢的骨骼肌肉异常、先天性巨结肠病或神经缺陷，并用于 WS 的临床分类。该综合征涉及六个基因：PAX3（编码配对盒 3 转录因子）、MITF（小眼畸形相关转录因子）、EDN3（内皮素 3）、EDNRB（内皮素受体 B）、SOX10（编码 Sry bOX10 转录因子）和 SNAI2（蜗牛同源物 2），其频率不同。在这篇综述中，我们提供了所有 WS 基因的最新信息，并建立了突变数据库，总结了它们各自的分子和功能数据，并讨论了在诊断和遗传咨询中的应用。
