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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
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Mutations
Protein domains
References
Mutation Details
DNA change
Protein change
Exon/intron
Type
Reported classification
Bateman
SIFT
PolyPhen
Conserved
Protein domain
Remarks
LOVD ID
c.1453C>T
p.Arg485X
Exon 12
Nonsense
Disease-causing
n.a.
n.a.
n.a.
n.a.
Ig 5
Segregation of the mutation with the disease
Patients
Family
# Affected relatives
Clinical features
Remarks
Reference
1
4
(Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation
Died < 1 yr: 4/4
Jouet et al. (1994)
References
Year
Author
Title
Journal
Volume
Pages
Weblink
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