Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.551G>Ap.Arg184GlnExon 6MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 2 The mutation strongly reduces homophilic and heterophilic binding (De Angelis 1999), reduces expression at the cell-surface of CHO cells (De Angelis, 2002) and reduces the neurite outgrowth (Zhao)


Family# Affected relativesClinical featuresRemarksReference
1 15 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Died before the age of 1 yr: 10/15 Jouet et al. (1994)
2 2 Adducted thumbs, Hydrocephalus, ? Death < 1 yr: 1/2 MacFarlane et al. (1997)
3 1 Hydrocephalus, ?   Vos et al. (2010)


1999De Angelis et al.Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. EMBO J. 18 No. 174744-4453 10469653
2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1994Jouet et al.X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene Nat. Genet. 7402-407 7920659
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429
1996Zhao and SiuDifferential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1 J. Biol. Chem. 2716563-6566 8636066