Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.807-6G>Ap.Phe269LeufsX39Intron 7RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a. Proven effect on RNA splicing by creating a novel intron acceptor site (MacFarlane et al.) and segregation of the mutation with the disease (Du et al.)


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia   MacFarlane et al. (1997)
2 >1 Hydrocephalus, ? Family K8625 Du et al. (1998b)
3 >2 MASA syndrome Family K8595 Du et al. (1998b)
4 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Hypotonia, Spastic paraplegia   Nunes et al (2009)


1998bDu et al.Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene Hum. Mutat. 11222-230 9521424
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224
2009Nunes et alCongenital hydrocephalus and L1 disease: a case report (2009: 7b) Eur Radiol Epub ahead of print1-4 19714335