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PMID: 7762552 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

American journal of human genetics ·Vol. 56 ·No. 6 ·1995-06-00 ·Pages 1304-14

Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S

Abstract

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function.

MeSH Terms

Abnormalities, Multiple/etiology,genetics Base Sequence Cell Adhesion Molecules, Neuronal/genetics Conserved Sequence Female Fibronectins/genetics Genetic Linkage Genetic Testing Humans Hydrocephalus/etiology,genetics Leukocyte L1 Antigen Complex Male Models, Molecular Molecular Sequence Data Mutation Pedigree Protein Conformation Sequence Analysis, DNA Sex Chromosome Aberrations/etiology,genetics X Chromosome/genetics

Chemicals

Cell Adhesion Molecules, Neuronal Fibronectins Leukocyte L1 Antigen Complex

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Jouet M

University of Cambridge Department of Medicine, Addenbrooke's Hospital, United Kingdom.

Moncla A

Paterson J

McKeown C

Fryer A

Carpenter N

Holmberg E

Wadelius C

Kenwrick S

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1995-06-00

Pages

1304-14

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1801103

Subset

External Links

PubMed source PMC Full Text View journal details

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New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

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