PMID: 9440802Jan 24, 1998Paper

L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling

Brain & Development
S TakahashiJ Oki

Abstract

Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to stenosis of the aqueduct of Sylvius), MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. We examined the L1CAM mutation in a Japanese family with HSAS for the purpose of DNA-based genetic counseling. The proband was a 9-year-old boy who had a 1-bp deletion in exon 22 of the L1CAM gene. This resulted in a shift of the reading frame, and introduction of a premature stop codon. Translation of this mRNA will create a truncated protein without the transmembrane domain, which cannot be expressed on the cell surface. Magnetic resonance images (MRI) revealed markedly enlarged lateral ventricles, hypoplastic white matter, thin cortical mantle, agenesis of the corpus callosum and septum pellucidum, and a fused thalamus. These findings represented impaired L1CAM function during development of the nervous system with resultant adhesion between neurons, neurites outgrowth and fasciculation, and neural cell migration. Screening by Apa I digestion of polymerase chain reaction (PCR) products identified the mother and the younger sister as heteroz...Continue Reading

References

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Citations

Jan 22, 2005·Prenatal Diagnosis·Fatma SilanWilly Lissens
Aug 18, 2009·European Journal of Pediatrics·Maria PiccioneGiovanni Corsello
Jun 1, 2004·Science in Context·N A Holtzman

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