Reference details

Gu et al.1996J. Med. Genet.103-10633Five novel mutations in the L1CAM gene in families with X linked hydrocephalus 8929944

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Sign.pept.Exon 1c.52dupCp.Leu18ProfsX10Duplication; frameshiftDisease-causing Details
Ig 2Exon 6c.581A>Gp.Tyr194CysMissenseDisease-causing Details
Ig 3Exon 7c.719C>Tp.Pro240LeuMissenseDisease-causing Details
Ig 3Exon 8c.828G>Ap.Trp276XNonsenseDisease-causing Details
Ig 3Exon 8c.955delGp.Gly319AlafsX71Deletion; frameshiftDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.52dupC p.Leu18ProfsX10Exon 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation Died at the age of 12 yrs. Family HC8
2 3 c.581A>G p.Tyr194CysExon 6 Adducted thumbs, Hydrocephalus Brother with HC died at the age of 3 months
3 4 c.719C>T p.Pro240LeuExon 7 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Died before the age of 1 yr: 3/4
4 2 c.828G>A p.Trp276XExon 8 Hydrocephalus, ? Index case >9 yrs. Uncle died two days after birth. Family HC10
5 2 c.955delG p.Gly319AlafsX71Exon 8 Hydrocephalus, ?