Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1792G>A	p.Asp598Asn	Exon 14	Missense	Disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Ig 6	Segregation of the mutation with the disease. Reduction of heterophilic binding and almost normal homophilic binding (De Angelis). Neurite outgrowth is comparable to wild type L1 (Cheng)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia		Vits et al. (1994), Winter et al. (1989)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Cheng and Lemmon	Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate	Mol. Cell. Neurosci.	27	522-530	15555929
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
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310
1994	Vits et al.	MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM	Nat. Genet.	7	408-413	7920660