Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2254G>Ap.Val752MetExon 18MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Fn 2 Family 3: de novo by mother

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ?   Gu et al. (1997)
2 1 Adducted thumbs, Hydrocephalus, Spastic paraplegia   Kanemura et al (2006)
3 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia > 2 yrs Parisi et al (2002)
4 7 (Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia Index case: > 20 yrs Vos et al. (2010)
5 4 Hydrocephalus, ? Index case: >20 yrs Vos et al. (2010)
6 2 Hydrocephalus, ? Index case: terminated pregnacy (male) because of severe hydrocephalus Vos et al. (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1997Gu et al.Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait Am. J. Med. Genet. 71336-340 9268105
2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
2002Parisi et alHydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? Am J med Genet A 10851-56 11857550
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