Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1672C>Tp.Arg558XExon 13NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 6 De novo in family 1


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus 0 yr Finckh et al. (2000)
2 4 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Death < 1 yr: 1/4 MacFarlane et al. (1997)
3 1 Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia, Spastic paraplegia   Jackson et al. (2009)
4     Gal J.


2000Finckh et al.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease Am. J. Med. Genet. 9240-46 10797421
 Gal J. Personal communication   
2009Jackson et al.L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease Pediatr Surg Int 25(9)823-825 19641926
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224