GENE ANALYSIS OF L1 NEURAL CELL-ADHESION MOLECULE IN PRENATAL-DIAGNOSIS OF HYDROCEPHALUS

X-linked hydrocephalus is the most common form of inherited hydrocepha lus, and is associated with severe neurological deficits and premature death. We have shown that mutations in the gene encoding L1 neural ce ll adhesion molecule result in X-linked hydrocephalus, which enables i mproved prenatal diagnosis and investigation of the role of this molec ule in sporadic cases. Here we report two pedigrees with apparently sp oradic hydrocephalus in which we demonstrated a disabling mutation in the L1 gene. This enabled us to provide definitive prenatal diagnosis at 10 weeks' gestation.