Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
复制标题
DOI：
10.1007/s10038-004-0153-4
复制
发表时间：
2004-06-01
影响因子：
3.5
通讯作者：
Yamasaki, M
中科院分区：
文献类型：
--
作者：
Okamoto, N;Del Maestro, R;Yamasaki, M
L1CAM基因是神经细胞黏附分子免疫球蛋白基因超家族中的一员，它的异常与X连锁脑积水和一些等位基因疾病有关。先天性巨结肠(HSCR)是以远端肠神经节细胞缺失和神经干肥大为特征的疾病。已经有三例X连锁脑积水和HSCR患者的L1CAM基因突变的报道。我们报告了另外三名有类似情况的患者。我们怀疑L1CAM降低可能是HSCR发生发展的一个修饰因素。
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. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR with a mutation in the L1CAM gene. We report three more patients with similar conditions. We suspect that decreased L1CAM may be a modifying factor in the development of HSCR.