Reference details

Graf et al.2000Ann. Neurol.113-11747Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus 10632110

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 2Exon 5c.466C>Gp.Ser156XNonsenseDisease-causing Details
Ig 2Exon 6c.550C>Tp.Arg184TrpMissenseDisease-causing Details
Ig 4Exon 10c.1224delCp.Arg409GlyfsX21Deletion; frameshiftDisease-causing Details
Ig 5Exon 11c.1340_1353del14p.Leu447ArgfsX40Deletion; frameshiftDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.466C>G p.Ser156XExon 5 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation Index case died at the age of 12 yrs. Patient 2 died shortly after birth.
2 1 c.550C>T p.Arg184TrpExon 6 (Dys)agenesis corpus callosum  
3 1 c.1224delC p.Arg409GlyfsX21Exon 10 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation  
4 2 c.1340_1353del14 p.Leu447ArgfsX40Exon 11 (Dys)agenesis corpus callosum, Hydrocephalus Two brothers: >7 yrs and > 5,5 yrs