The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.

Abstract

Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes.

• Authors: E Fransen, L Vits, G Van Camp, P J Willems
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 64 Issue 1 Pg. 73-7 (Jul 12 1996) ISSN: 0148-7299 [Print] United States
• PMID: 8826452 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cell Adhesion Molecules, Neuronal
• Leukocyte L1 Antigen Complex
• Membrane Glycoproteins

Topics

• Cell Adhesion Molecules, Neuronal (genetics)
• Genotype
• Humans
• Hydrocephalus (genetics)
• Intellectual Disability (genetics)
• Leukocyte L1 Antigen Complex
• Membrane Glycoproteins (genetics)
• Mutation
• Phenotype
• Syndrome