Reference details

Hubner et al2004Hum Mutat52623(5)Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing 15108295

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 5c.523+12C>Tp.?RNA splicing defectDisease-causing Details
n.a.Intron 5c.523+5G>Ap.?RNA splicing defectDisease-causing Details
n.a.Intron 9c.1123+1G>Ap.?Splice siteDisease-causing Details
n.a.Intron 12c.1547-13delCp.?RNA splicing defectDisease-causing Details
n.a.Intron 24c.3323-17dupGnoneIntronic variationNon disease-causing Details
n.a.Intron 25c.3457+18C>TnoneIntronic variationNon disease-causing Details
n.a.Intron 25c.3457+3A>Tp.?RNA splicing defectDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 unknown c.523+5G>A p.?Intron 5 Hydrocephalus  
2 Unknown c.1123+1G>A p.?Intron 9 Hydrocephalus  
3 Unknown c.3457+3A>T p.?Intron 25 Hydrocephalus, Mental retardation  
4 2 c.523+12C>T p.?Intron 5 Adducted thumbs, Hydrocephalus Stillborn 2/2
5 1 c.523+12C>T p.?Intron 5 Adducted thumbs, Hydrocephalus, Mental retardation De novo by mother
6 1 c.1547-13delC p.?Intron 12 Adducted thumbs, Hydrocephalus, Mental retardation Died at the age of 1 yr
7 1 c.3323-17dupG noneIntron 24 Hydrocephalus Died at the age of 10 months