Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2721C>T	p.=	Exon 20	Silent	Non disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 3	In exon 6 a disease-causing mutation was detected p.Arg184Gln

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	15	Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia	In this family a disease-causing mutation (p.Arg184Gln) was detected in addition to the silent mutation	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