Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2701C>T	p.Arg901X	Exon 20	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 3

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus	Death < 1 yr: 1/2	MacFarlane et al. (1997)
2	1	Adducted thumbs, Hydrocephalus, Spastic paraplegia		Kanemura et al (2006)
3	2	Adducted thumbs, Hydrocephalus	Uncle died a few months after birth	Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2006	Kanemura et al	Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus	J Neurosurg: Pediatrics	105	403-412	17328266
1997	MacFarlane et al.	Nine novel L1CAM mutations in families with X-linked Hydrocephalus	Hum. Mutat.	9	512-518	9195224
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429