Title
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAMMASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
Human molecular genetics
Publication type
article
Publication
New York, N.Y.,
Subject
Human medicine
Source (journal)
Nature genetics. - New York, N.Y.
Volume/pages
7(1994):3, p. 408-413
ISSN
1061-4036
ISI
A1994NU30600016
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome. Three different L1CAM mutations were identified: a deletion removing part of the open reading frame and two point mutations resulting in amino acid substitutions. L1CAM, therefore, harbours mutations leading to either MASA syndrome or HSAS, and might be frequently implicated in X-linked mental retardation with or without hydrocephalus.
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