Reference details

Fransen et al.1994Hum. Mol. Genet.2255-22563X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene 7881431

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Cytopl.Exon 28c.3581C>Tp.Ser1194LeuMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.3581C>T p.Ser1194LeuExon 28 MASA syndrome 2 MASA patients, 1 HSAS patient (died at the age of 15 yrs)