Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1267+1G>Ap.?Intron 10Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a. Exon 10 skipping? Proven?


Family# Affected relativesClinical featuresRemarksReference
1 Unknown Hydrocephalus, ?   Fransen et al. (1996)
2 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation   Du et al. (1998c)
3 Unknown Unknown   Fransen et al. (1997)


1998cDu et al.Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus Am. J. Med. Genet. 75200-202 9450886
1994Forrest et al.Mutation detection in X-linked hydrocephalus Am. J. Hum. Genet. 55A219
1996Fransen et al.The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule Am. J. Med. Genet. 6473-77 8826452
1997Fransen et al.L1-associated diseases: clinical geneticists divide, molecular geneticists unite Hum. Mol. Genet. 61625-1632 9300653
2010Vos et al. To be published