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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
- Source :
- Nature genetics
- Publication Year :
- 1994
-
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.
- Subjects :
- Male
L1
Cell Adhesion Molecules, Neuronal
DNA Mutational Analysis
Molecular Sequence Data
MASA syndrome
Biology
medicine.disease_cause
Polymerase Chain Reaction
Open Reading Frames
Intellectual Disability
Genetics
medicine
Aphasia
Humans
Point Mutation
Gait
X chromosome
Polymorphism, Single-Stranded Conformational
Sequence Deletion
Paraplegia
Mutation
Base Sequence
Point mutation
Syndrome
medicine.disease
Hydrocephalus
Pedigree
Thumb
Neural cell adhesion molecule
Female
Human medicine
Neuronal Cell Adhesion Molecule
Leukocyte L1 Antigen Complex
Subjects
Details
- ISSN :
- 10614036
- Volume :
- 7
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Nature genetics
- Accession number :
- edsair.doi.dedup.....8013de43dba9d04ff18ab9f1ff41b52c