Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.924C>T	p.Gly308_Glu330del	Exon 8	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 3	Segregation of the mutation with the disease.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	6	(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation	Index case >7 yrs, 4 greatuncles died at birth or in early infancy	Du et al. (1998a)
2	2	Hydrocephalus, ?	Both died neonatal	Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
1998a	Du et al.	A silent mutation, C924T (G308G), in the L1CAM gene results in X-linked hydrocephalus (HSAS)	J. Med. Genet.	35	456-462	9643285
2010	Vos et al.		To be published