Waardenburg syndrome
Waardenburg syndrome
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DOI：
10.1136/jmg.34.8.656
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发表时间：
1997-08-01
影响因子：
4
通讯作者：
Newton, VE
中科院分区：
文献类型：
--
作者：
Read, AP;Newton, VE
听觉色素综合征是由于皮肤、头发、眼睛或耳蜗血管纹中黑素细胞的生理缺失引起的。显性遗传性斑片状色素脱失的病例通常称为瓦登堡综合征(WS)。I型WS是由PAX3基因功能突变引起的，其特征是尖端异端乌托邦。III型WS(Klein-Waardenburg综合征，伴有手臂异常)是I型的极端表现；一些但不是所有的患者都是纯合子。IV型WS(Shah-Waardenburg综合征伴先天性巨结肠)可由内皮素-3或其受体之一EDNRB的基因突变引起。II型WS是一个异质性群体，其中约15%是MITF(小眼球相关转录因子)基因突变的杂合子。所有这些形式都显示出显著的变异性，即使在家庭内部也是如此，目前即使检测到突变也无法预测其严重程度。确定这些基因的特征有助于解开神经脊及其衍生物的重要发育途径。
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives.