Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3496C->Tp.Arg1166XExon 26NonsenseDisease-causingn.a.n.a.n.a.n.a. Cytopl.  


Family# Affected relativesClinical featuresRemarksReference
1 >2 Adducted thumbs, Hydrocephalus, Mental retardation Oldest mutation carrier: 40 yrs Finckh et al. (2000)
2 1 (Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia > 10 yrs Kanemura et al (2005)


2000Finckh et al.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease Am. J. Med. Genet. 9240-46 10797421
2005Kanemura et alFirst case of L1CAM gene mutation identified in MASA syndrome in Asia Congenital Anomalies 4567-69 15904436