UMCG

University Medical Center Groningen

Department of Genetics - L1CAM Mutation Database

Protein domains

Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Gu et al.	1997	Am. J. Med. Genet.	336-340	71	Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait	9268105

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 5	Exon 11	c.1318C>T	p.Gln440X	Nonsense	Disease-causing	Details
Ig 5	Exon 12	c.1445T>C	p.Leu482Pro	Missense	Likely disease-causing	Details
Ig 6	Exon 13	c.1576_1578del3	p.Ser526del	Deletion	Likely disease-causing	Details
Ig 6	Exon 13	c.1624T>C	p.Ser542Pro	Missense	Likely disease-causing	Details
Fn 2	Exon 18	c.2222T>C	p.Met741Thr	Missense	Likely disease-causing	Details
Fn 2	Exon 18	c.2254G>A	p.Val752Met	Missense	Disease-causing	Details
Fn 2	Exon 18	c.2302G>A	p.Val768Ile	Missense	Likely non disease-causing	Details
Fn 2	Exon 18	c.2307C>T	p.=	Silent	Non disease-causing	Details
Fn 5	Exon 23	c.3124C>T	p.Gln1042X	Nonsense	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	2	c.2254G>A	p.Val752Met	Exon 18	Hydrocephalus, ?
2	2	c.1318C>T	p.Gln440X	Exon 11	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	(M) grandmother had stillborn infant (male) with HC. Fam HC18 in ref.
3	2	c.1445T>C	p.Leu482Pro	Exon 12	Hydrocephalus, ?	Index case: died at the age of 4 months. (M) Uncle > 22yrs, MASA syndrome. Fam. HC25 in ref.
4	4	c.1576_1578del3	p.Ser526del	Exon 13	Hydrocephalus, ?	Mutation cosegregates with disease
5	2	c.1624T>C	p.Ser542Pro	Exon 13	Hydrocephalus, ?
6	1	c.2222T>C	p.Met741Thr	Exon 18	Hydrocephalus, ?
7	5	c.2302G>A	p.Val768Ile	Exon 18	Hydrocephalus, Mental retardation	3/5 have HC
8	2	c.3124C>T	p.Gln1042X	Exon 23	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	(M) grandmother had a (male) stillbirth infant with HC