Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.361G>Ap.Gly121SerExon 4MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 1 This mutation is detected in both affected males. The mutation reduces homophilic (strongly) and heterophilic binding (De Angelis 1999) and reduces expression at the cell-surface of CHO cells (De Angelis, 2002)

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia Both > 1 yr Jouet et al. (1995a)

References

YearAuthorTitleJournalVolumePagesWeblink
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
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
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310