Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3543-?_(*731_?)del	p.?	Intron 27	Deletion	Disease-causing	n.a.	n.a.	n.a.	n.a.	Cytopl.	Deletion of at least 2 kb. 5' breakpoint lies within intron 27. Segregation of the mutation with the disease.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	7	Adducted thumbs, Mental retardation, Spastic paraplegia		Macias et al. (1992), Vits et al. (1994)

Year	Author	Title	Journal	Volume	Pages	Weblink
1994	Vits et al.	MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM	Nat. Genet.	7	408-413	7920660