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PMID: 7920659 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

Nature genetics ·Vol. 7 ·No. 3 ·1994-07-00 ·Pages 402-7

Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S

Abstract

X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. Here we report mutations of the L1 gene in MASA syndrome and SPG1, in addition to HSAS families. Two of the HSAS mutations would abolish cell surface expression of L1 and represent the first functional null mutations in this disorder. Our results indicate that these three syndromes from part of a clinical spectrum resulting from a heterogeneous group of mutations in the L1 gene.

Related Genes

L1 L1CAM SPG1

MeSH Terms

Aphasia/genetics Base Sequence Cell Adhesion Molecules, Neuronal/chemistry,genetics,physiology Cell Movement Chromosome Mapping DNA Mutational Analysis Female Gait Genes Humans Hydrocephalus/genetics Intellectual Disability/genetics Leukocyte L1 Antigen Complex Male Models, Molecular Molecular Sequence Data Neurons/pathology Paraplegia/genetics Phenotype Point Mutation Polymorphism, Single-Stranded Conformational Protein Conformation Pyramidal Tracts/pathology Sequence Deletion Syndrome Thumb/abnormalities X Chromosome

Chemicals

Cell Adhesion Molecules, Neuronal Leukocyte L1 Antigen Complex

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Jouet M

Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.

Rosenthal A

Armstrong G

MacFarlane J

Stevenson R

Paterson J

Metzenberg A

Ionasescu V

Temple K

Kenwrick S

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0794-402

Published

1994-07-00

Pages

402-7

Language

English

Region

United States

NLM ID

9216904

Subset

External Links

PubMed source DOI: 10.1038/ng0794-402 View journal details

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

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