Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.536T>Gp.Ile179SerExon 6MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 2 Reduced stimulation of neurite outgrowth (Michelson et al.)


Family# Affected relativesClinical featuresRemarksReference
1 5 Adducted thumbs, Mental retardation, Spastic paraplegia   Fryns et al. (1991), Ruiz et al. (1995)
2 >1 Hydrocephalus, Spastic paraplegia   Vos et al. (2010)


1991Fryns et al.X-linked complicated spastic paraplegia, MASA syndrome and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: a variable expression of the same mutation at Xq28 J. Med. Genet. 28429-431 1870106
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
2002Michelson et al.Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons Hum. Mutat. 20481-482 12442287
1995Ruiz et al.Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS J. Med. Genet. 32549-552 7562969
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