Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.523+12C>Tp.?Intron 5RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a. The mutation segregates with the disease in family 1. Not found in 4 unaffected males in the family. RT PCR: new splice donor site, insertion of 10 bp of intron 5 in coding sequence.


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus Stillborn 2/2 Hubner et al (2004)
2 1 Adducted thumbs, Hydrocephalus, Mental retardation De novo by mother Hubner et al (2004)


2004Hubner et alIntronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing Hum Mutat 23(5)526 15108295