Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.400+5G>Cp.Phe108CysfsX92Intron 4RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a. De novo in family 1. Activates a cryptic splice donor site, 80 bp upstream in exon 4, as proven bij Coucke et al.


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus, ?   Saugier-Veber et al. (1998)
2 Unknown Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia   Coucke et al. (1994), Serville et al. (1992)
3 1 Adducted thumbs, Hydrocephalus   Vos et al. (2010)


1994Coucke et al.Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family Hum. Mol. Genet. 3671-673 8069317
1998Saugier-Veber et al.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis Hum. Mutat. 12259-266 9744477
1992Serville et al.X-linked hydrocephalus: clinical heterogeneity at a single gene locus Eur. J. Pediatr. 151515-518 1396913
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