Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.361G>A	p.Gly121Ser	Exon 4	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 1	This mutation is detected in both affected males. The mutation reduces homophilic (strongly) and heterophilic binding (De Angelis 1999) and reduces expression at the cell-surface of CHO cells (De Angelis, 2002)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia	Both > 1 yr	Jouet et al. (1995a)

Year	Author	Title	Journal	Volume	Pages	Weblink
1999	De Angelis et al.	Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.	EMBO J.	18 No. 17	4744-4453	10469653
2002	De Angelis et al.	Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression	Hum. Mol. Genet.	11	1-12	11772994
1995a	Jouet et al.	New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome	Am. J. Hum. Genet.	56	1304-1314	7762552
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310