Reference details

Ruiz et al.1995J. Med. Genet.549-55232Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS 7562969

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 6c.536T>Gp.Ile179SerMissenseDisease-causing Details
Ig 4Exon 9c.1108G>Ap.Gly370ArgMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 5 c.536T>G p.Ile179SerExon 6 Adducted thumbs, Mental retardation, Spastic paraplegia  
2 19 c.1108G>A p.Gly370ArgExon 9 Hydrocephalus, ? Family with variable manifestations of clinical symptoms from Hydrocephalus to MASA syndrome