Reference details

Okamoto et al.2004J Hum Genet334-33749Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM 15148591

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 5c.523+6T>GnoneIntronic variationNon disease-causing Details
n.a.Intron 15c.1939+5G>Ap.?RNA splicing defectDisease-causing Details
Fn 4Exon 22c.2974C>Tp.Gln992XNonsenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.2974C>T p.Gln992XExon 22 (Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia Index case > 14 yrs
2 5 c.1939+5G>A p.?Intron 15 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Hypotonia Two brothers with HSCR. 1/5 stillborn, 1/5 died at young age 1/5 XLH only