Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3531-12G>Ap.?Intron 26RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a. De novo in family 3. Segregation of the mutation with the disease in fam 1 and 2


Family# Affected relativesClinical featuresRemarksReference
1 6 Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia All patients: > 1 yr Jouet et al. (1995a), Yeatman (1984)
2 3 Adducted thumbs, Hydrocephalus, ? Maternal uncles: MR, SP, AT Pomili et al. (2000)
3 1 Adducted thumbs, Mental retardation > 7 yrs Vos et al. (2010)


1995aJouet et al.New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome Am. J. Hum. Genet. 561304-1314 7762552
2000Pomili et al.MASA syndrome: ultrasonographic evidence in a male fetus Prenat Diagn 201012-1014 11113917
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