Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3496C->T	p.Arg1166X	Exon 26	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Cytopl.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
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)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Finckh et al.	Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease	Am. J. Med. Genet.	92	40-46	10797421
2005	Kanemura et al	First case of L1CAM gene mutation identified in MASA syndrome in Asia	Congenital Anomalies	45	67-69	15904436