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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel Cdoi
10.1038/ng0794-408subject
Has Abstract,Author List Incompletepub_date
1994-07-01 00:00:00pages
408-13issue
3eissn
1061-4036issn
1546-1718journal_volume
7pub_type
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