Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2822C>T	p.Pro941Leu	Exon 21	Missense	Disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Fn 4	Segregation of the mutation with the disease

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	6	Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia	Died before the age of 1 yr: 0/3	Jouet et al. (1995a)

Year	Author	Title	Journal	Volume	Pages	Weblink
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