Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2431+2_2431+3delTG	p.?	Intron 18	Splice site	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	c.2431+1delGT in literature

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	>2	Adducted thumbs, Hydrocephalus	Oldest mutation carrier: 0 yr	Finckh et al. (2000)
2	>2	Adducted thumbs, ?		Kanemura et al (2006)
3	1	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Bilateral duplex kidneys and ureters. > 9 yrs	Liebau et al. (2007)

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
2006	Kanemura et al	Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus	J Neurosurg: Pediatrics	105	403-412	17328266
2007	Liebau et al.	L1CAM mutation in a boy with hydrocephalus and duplex kidneys	Pediatr Nephrol	22	1058-1061	17294222