Rosenthal A, Jouet M, Kenwrick S
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.
Nat Genet. 1992 Oct;2(2):107-12. doi: 10.1038/ng1092-107.
A locus for X-linked hydrocephalus (HSAS), which is characterized by mental retardation and enlarged brain ventricles, maps to the same subchromosomal region (Xq28) as the gene for neural cell adhesion molecule L1. We have found novel L1 mRNA species in cells from affected members of a HSAS family containing deletions and insertions produced by the utilization of alternative 3' splice sites. A point mutation at a potential branch point signal in an intron segregates with the disease and is likely to be responsible for the abnormal RNA processing. These results suggest that HSAS is a disorder of neuronal cell migration due to disruption of L1 protein function.
X连锁脑积水（HSAS）以智力迟钝和脑室扩大为特征，其基因座定位于与神经细胞黏附分子L1基因相同的亚染色体区域（Xq28）。我们在一个患有HSAS的家族的受累成员的细胞中发现了新的L1 mRNA种类，该家族存在因使用替代3'剪接位点而产生的缺失和插入。内含子中一个潜在分支点信号处的点突变与疾病共分离，可能是异常RNA加工的原因。这些结果表明，HSAS是一种由于L1蛋白功能破坏导致的神经元细胞迁移障碍。
