Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Cell Adhesion Molecules, Neuronal / physiology
  • Cell Movement / genetics
  • DNA / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Hydrocephalus / genetics*
  • Hydrocephalus / physiopathology
  • Leukocyte L1 Antigen Complex
  • Male
  • Molecular Sequence Data
  • Neurons / physiology
  • Pedigree
  • Polymerase Chain Reaction
  • RNA Splicing / genetics*
  • RNA, Messenger / genetics
  • X Chromosome


  • Cell Adhesion Molecules, Neuronal
  • Leukocyte L1 Antigen Complex
  • RNA, Messenger
  • DNA