Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.791G>A	p.Cys264Tyr	Exon 7	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 3	Segregation of the mutation with the disease. The mutation reduces homophilic and heterophilic binding (De Angelis)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	5	Hydrocephalus, ?	Family H2 in reference. Died before the age of 1yr: 5/5	Jouet et al. (1993a)

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
1993b	Jouet et al.	A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)	Nat. Genet.	4	331	8401576
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310
2002	Michelson et al.	Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons	Hum. Mutat.	20	481-482	12442287
2003	Rünker et al.	The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo	J. Neurosc	23(1)	277-286	12514225