MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
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.
Vits
L
L
Department of Medical Genetics, University of Antwerp, Belgium.
Van Camp
G
G
Coucke
P
P
Fransen
E
E
De Boulle
K
K
Reyniers
E
E
Korn
B
B
Poustka
A
A
Wilson
G
G
Schrander-Stumpel
C
C
D001037:Aphasia / Q000235:genetics*; D001483:Base Sequence; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005684:Gait; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D010264:Paraplegia / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities
D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex