Van Camp G, Van Thienen M N, Handig I, Van Roy B, Rao V S, Milunsky A, Read A P, Baldwin C T, Farrer L A, Bonduelle M
Department of Medical Genetics, University of Antwerp, Belgium.
J Med Genet. 1995 Jul;32(7):531-6. doi: 10.1136/jmg.32.7.531.
Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not all families. An association of WS symptoms with Hirschsprung disease (HSCR) has been reported in many families. We report here a patient with characteristics of WS2 and a de novo interstitial deletion of chromosome 13q. We also describe a family with two sibs who have both WS2 and HSCR. In this family, all possible genes for WS and HSCR, but not chromosome 13q, could be excluded. As an association between chromosome 13q and HSCR/WS has been reported previously, these data suggest that there is a gene on chromosome 13q that is responsible for WS or HSCR or both.
瓦登伯革氏综合征（WS）是一种常染色体显性疾病，其特征为色素异常和感音神经性耳聋。根据内眦异位的存在与否，它被分为1型（WS1）和2型（WS2）。WS1总是由PAX3基因突变引起，而WS2在部分但并非所有家族中由小眼畸形（MITF）基因突变引起。许多家族报告了WS症状与先天性巨结肠（HSCR）之间的关联。我们在此报告一名具有WS2特征且13号染色体长臂存在新发间质性缺失的患者。我们还描述了一个有两名患有WS2和HSCR的同胞的家族。在这个家族中，可以排除所有可能与WS和HSCR相关的基因，但不包括13号染色体长臂。由于先前已报告13号染色体长臂与HSCR/WS之间存在关联，这些数据表明13号染色体长臂上存在一个基因，该基因导致WS或HSCR或两者皆有。
