Reference details

Gu et al.1997Am. J. Med. Genet.336-34071Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait 9268105

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 5Exon 11c.1318C>Tp.Gln440XNonsenseDisease-causing Details
Ig 5Exon 12c.1445T>Cp.Leu482ProMissenseLikely disease-causing Details
Ig 6Exon 13c.1576_1578del3p.Ser526delDeletionLikely disease-causing Details
Ig 6Exon 13c.1624T>Cp.Ser542ProMissenseLikely disease-causing Details
Fn 2Exon 18c.2222T>Cp.Met741ThrMissenseLikely disease-causing Details
Fn 2Exon 18c.2254G>Ap.Val752MetMissenseDisease-causing Details
Fn 2Exon 18c.2302G>Ap.Val768IleMissenseLikely non disease-causing Details
Fn 2Exon 18c.2307C>Tp.=SilentNon disease-causing Details
Fn 5Exon 23c.3124C>Tp.Gln1042XNonsenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.2254G>A p.Val752MetExon 18 Hydrocephalus, ?  
2 2 c.1318C>T p.Gln440XExon 11 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia (M) grandmother had stillborn infant (male) with HC. Fam HC18 in ref.
3 2 c.1445T>C p.Leu482ProExon 12 Hydrocephalus, ? Index case: died at the age of 4 months. (M) Uncle > 22yrs, MASA syndrome. Fam. HC25 in ref.
4 4 c.1576_1578del3 p.Ser526delExon 13 Hydrocephalus, ? Mutation cosegregates with disease
5 2 c.1624T>C p.Ser542ProExon 13 Hydrocephalus, ?  
6 1 c.2222T>C p.Met741ThrExon 18 Hydrocephalus, ?  
7 5 c.2302G>A p.Val768IleExon 18 Hydrocephalus, Mental retardation 3/5 have HC
8 2 c.3124C>T p.Gln1042XExon 23 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia (M) grandmother had a (male) stillbirth infant with HC