Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Vits et al.1994Nat. Genet.408-4137MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM 7920660

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 6c.630C>Gp.His210GlnMissenseDisease-causing Details
Ig 6Exon 14c.1792G>Ap.Asp598AsnMissenseDisease-causing Details
Cytopl.Intron 27c.3543-?_(*731_?)delp.?DeletionDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 5 c.630C>G p.His210GlnExon 6 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Hydrocephalus 1/5. Died before the age of 1yr:0/5
2 3 c.1792G>A p.Asp598AsnExon 14 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia  
3 7 c.3543-?_(*731_?)del p.?Intron 27 Adducted thumbs, Mental retardation, Spastic paraplegia