Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.536T>G	p.Ile179Ser	Exon 6	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 2	Reduced stimulation of neurite outgrowth (Michelson et al.)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	5	Adducted thumbs, Mental retardation, Spastic paraplegia		Fryns et al. (1991), Ruiz et al. (1995)
2	>1	Hydrocephalus, Spastic paraplegia		Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
1991	Fryns et al.	X-linked complicated spastic paraplegia, MASA syndrome and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: a variable expression of the same mutation at Xq28	J. Med. Genet.	28	429-431	1870106
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
1995	Ruiz et al.	Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS	J. Med. Genet.	32	549-552	7562969
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429