Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.523+12C>T	p.?	Intron 5	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	The mutation segregates with the disease in family 1. Not found in 4 unaffected males in the family. RT PCR: new splice donor site, insertion of 10 bp of intron 5 in coding sequence.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Hydrocephalus	Stillborn 2/2	Hubner et al (2004)
2	1	Adducted thumbs, Hydrocephalus, Mental retardation	De novo by mother	Hubner et al (2004)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Hubner et al	Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing	Hum Mutat	23(5)	526	15108295