Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1453C>T	p.Arg485X	Exon 12	Nonsense	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 5	Segregation of the mutation with the disease

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	4	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation	Died < 1 yr: 4/4	Jouet et al. (1994)

Year	Author	Title	Journal	Volume	Pages	Weblink
1994	Jouet et al.	X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene	Nat. Genet.	7	402-407	7920659