一名患有L1CAM突变的患者出现脑积水和先天性巨结肠病。
Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.
作者信息
Okamoto N, Wada Y, Goto M
机构信息
Department of Planning and Research, Osaka Medical Centre, Japan.
出版信息
J Med Genet. 1997 Aug;34(8):670-1. doi: 10.1136/jmg.34.8.670.
Abstract
Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is the first report of HSCR with a mutant neural cell adhesion molecule. Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR.
摘要
L1CAM基因是神经细胞粘附分子免疫球蛋白基因超家族的成员之一，该基因异常与X连锁脑积水及一些等位基因疾病相关。我们描述了一名患有X连锁脑积水和先天性巨结肠病（HSCR）的患者，其L1CAM基因存在一种新的突变。这是首例报道的伴有突变神经细胞粘附分子的HSCR。尽管该患者的疾病表型很可能是独立的，但鉴于之前另一例同时患有X连锁脑积水和HSCR的患者的报道，不能排除L1CAM突变可能导致这两种表型的另一种解释。
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