Haddad N M, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z, Pingault V, Mégarbané A
Unité de Génétique Médicale et Laboratoire Associé INSERM UMR-S910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Mol Syndromol. 2011 Jan;1(4):169-175. doi: 10.1159/000322891. Epub 2011 Jan 10.
Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the MITF gene of the WS type II cases and 1 novel homozygous mutation in the EDNRB gene of the WS type IV case. This is the first molecular study of patients from the Arab world. Additional cases will enable a more detailed description of the clinical spectrum of Waardenburg syndrome in this region.
瓦登伯革氏综合征（WS）是一种遗传性疾病，主要特征为皮肤和毛发色素脱失、虹膜异色、感音神经性耳聋，有时还伴有内眦异位和先天性巨结肠。WS存在很大的临床和遗传异质性。已确定有四种不同类型，并与5个不同基因相关。我们报告了来自黎巴嫩和叙利亚的2例II型WS和1例IV型WS。基因研究揭示，II型WS病例的MITF基因有2个新突变，IV型WS病例的EDNRB基因有1个新的纯合突变。这是对阿拉伯世界患者的首次分子研究。更多病例将有助于更详细地描述该地区瓦登伯革氏综合征的临床谱。
