Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3209A>G	p.Tyr1070Cys	Exon 24	Missense	Disease-causing	Surface site	Not tolerated	Possibly damaging	Moderately	Fn 5	Segragation of the mutation with the disease. Increased heterophilic binding and normal homophilic binding (De Angelis) Defective in stimulating human epidermal growth factor receptor tyrosine kinase activity (Nagaraj)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	Hydrocephalus, Mental retardation, Spastic paraplegia	Died before the age of 1 yr: 1/4	Jouet et al. (1993a), 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
1993a	Jouet et al.	Refining the genetic localisation of the gene for X-linked hydrocephalus within Xq28	J. Med. Genet.	30	214-217	8474107
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
2009	Nagaraj et al.	Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR	Hum. Mol. Genet.	18 (20)	3822-3831	19617634