Username:
Password:
University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
Submit data
Contact
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.2344_2364dup
p.Val782_Val788dup
Exon 18
Duplication
Disease-causing
n.a.
n.a.
n.a.
n.a.
Fn 2
Segregation of the mutation with the disease
Patients
Family
# Affected relatives
Clinical features
Remarks
Reference
1
3
Adducted thumbs, Mental retardation, Spastic paraplegia
Index case: > 30 yrs. Brother died at the age of 5 yrs (severe hydrocephalus)
Vos et al. (2010)
References
Year
Author
Title
Journal
Volume
Pages
Weblink
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