UMCG

University Medical Center Groningen

Department of Genetics - L1CAM Mutation Database

Protein domains

Reference details

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

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 2	Exon 6	c.630C>G	p.His210Gln	Missense	Disease-causing	Details
Ig 6	Exon 14	c.1792G>A	p.Asp598Asn	Missense	Disease-causing	Details
Cytopl.	Intron 27	c.3543-?_(*731_?)del	p.?	Deletion	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	5	c.630C>G	p.His210Gln	Exon 6	(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Hydrocephalus 1/5. Died before the age of 1yr:0/5
2	3	c.1792G>A	p.Asp598Asn	Exon 14	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
3	7	c.3543-?_(*731_?)del	p.?	Intron 27	Adducted thumbs, Mental retardation, Spastic paraplegia