Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2701C>Tp.Arg901XExon 20NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 3  


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus Death < 1 yr: 1/2 MacFarlane et al. (1997)
2 1 Adducted thumbs, Hydrocephalus, Spastic paraplegia   Kanemura et al (2006)
3 2 Adducted thumbs, Hydrocephalus Uncle died a few months after birth Vos et al. (2010)


2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224
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