Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.807-6G>A	p.Phe269LeufsX39	Intron 7	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Proven effect on RNA splicing by creating a novel intron acceptor site (MacFarlane et al.) and segregation of the mutation with the disease (Du et al.)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia		MacFarlane et al. (1997)
2	>1	Hydrocephalus, ?	Family K8625	Du et al. (1998b)
3	>2	MASA syndrome	Family K8595	Du et al. (1998b)
4	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Hypotonia, Spastic paraplegia		Nunes et al (2009)

Year	Author	Title	Journal	Volume	Pages	Weblink
1998b	Du et al.	Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene	Hum. Mutat.	11	222-230	9521424
1997	MacFarlane et al.	Nine novel L1CAM mutations in families with X-linked Hydrocephalus	Hum. Mutat.	9	512-518	9195224
2009	Nunes et al	Congenital hydrocephalus and L1 disease: a case report (2009: 7b)	Eur Radiol	Epub ahead of print	1-4	19714335