Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.26G>Cp.Trp9SerExon 1MissenseDisease-causingn.a.Not toleratedProbably damagingModerately Sign.pept. Trp9Ser was predictably found to affect surface expression (De Angelis)


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Patient 1: > 6 yrs, patient 2 died at 2 weeks of age Jouet et al. (1993a), Jouet et al. (1995a)


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
1993aJouet et al.Refining the genetic localisation of the gene for X-linked hydrocephalus within Xq28 J. Med. Genet. 30214-217 8474107
1995aJouet et al.New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome Am. J. Hum. Genet. 561304-1314 7762552