Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3531-12G>A	p.?	Intron 26	RNA splicing defect	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	De novo in family 3. Segregation of the mutation with the disease in fam 1 and 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	6	Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia	All patients: > 1 yr	Jouet et al. (1995a), Yeatman (1984)
2	3	Adducted thumbs, Hydrocephalus, ?	Maternal uncles: MR, SP, AT	Pomili et al. (2000)
3	1	Adducted thumbs, Mental retardation	> 7 yrs	Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
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	Pomili et al.	MASA syndrome: ultrasonographic evidence in a male fetus	Prenat Diagn	20	1012-1014	11113917
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