Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2885delGp.Gly962AlafsX19Exon 22Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 4 De novo


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia >1 yr. Family H24 in ref Jouet et al. (1994)
2 1 Adducted thumbs, Hydrocephalus, Spastic paraplegia   Kanemura et al (2006)


1997Fransen et al.L1-associated diseases: clinical geneticists divide, molecular geneticists unite Hum. Mol. Genet. 61625-1632 9300653
1994Jouet et al.X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene Nat. Genet. 7402-407 7920659
2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266