Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2431+2_2431+3delTGp.?Intron 18Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a. c.2431+1delGT in literature


Family# Affected relativesClinical featuresRemarksReference
1 >2 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr Finckh et al. (2000)
2 >2 Adducted thumbs, ?   Kanemura et al (2006)
3 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Bilateral duplex kidneys and ureters. > 9 yrs Liebau et al. (2007)


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
2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266
2007Liebau et al.L1CAM mutation in a boy with hydrocephalus and duplex kidneys Pediatr Nephrol 221058-1061 17294222