Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2885delG	p.Gly962AlafsX19	Exon 22	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Fn 4	De novo

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia	>1 yr. Family H24 in ref	Jouet et al. (1994)
2	1	Adducted thumbs, Hydrocephalus, Spastic paraplegia		Kanemura et al (2006)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	Fransen et al.	L1-associated diseases: clinical geneticists divide, molecular geneticists unite	Hum. Mol. Genet.	6	1625-1632	9300653
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
2006	Kanemura et al	Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus	J Neurosurg: Pediatrics	105	403-412	17328266