Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2308G>Ap.Asp770AsnExon 18MissenseDisease-causingSurface siteToleratedBenignModerately Fn 2 Mild form due to missense mutation?


Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia Microcephaly. Index > 20 yrs Simonati et al. (2006)
2 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia > 12 years Bertolin et al (2010)


2010Bertolin et alNovel mutations in the L1CAM gene support the complexity of L1 syndrome J. Neurol Sc 294124-126 20447653
2006Simonati et al.A novel missense mutation in the L1CAM gene in a boy with L1 disease Neurol Sci 27114-117 16816908