Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

We analyzed 12 families with autosomal dominant early-onset Alzheimer's disease (EOAD) for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 41...

Full description

Saved in:
Bibliographic Details
Published in:Human molecular genetics 1995-12, Vol.4 (12), p.2373-2377
Main Authors: Campion, Dominique, Flaman, Jean-Michel, Brice, Alexis, Hannequin, Didier, Dubois, Bruno, Martin, Cosette, Moreau, Viviane, Charbonnier, Françoise, Didierjean, Olivier, Tardieu, Sandrine, Penet, Christiane, Puel, Michèle, Pasquier, Florence, Le Doze, François, Bellis, Gil, Calenda, Alphonse, Heilig, Roland, Martinez, Maria, Mallet, Jacques, Bellis, Michel, Clerget-Darpoux, Françoise, Agid, Yves, Frebourg, Thierry
Format: Article
Language:English
Subjects:
Age of Onset
Alzheimer Disease - genetics
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Cell Line, Transformed
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA
DNA Mutational Analysis
Female
Humans
Male
Medical sciences
Membrane Proteins - genetics
Molecular Sequence Data
Mutation
Neurology
Pedigree
Presenilin-1
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We analyzed 12 families with autosomal dominant early-onset Alzheimer's disease (EOAD) for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 410, including six novel mutations, were identified in eight families. Cosegregation of the mutations with EOAD was confirmed in three families, one including 36 affected individuals. This study underlines the great allelic heterogeneity and the large distribution of the mutations within the PSNLI coding region. Our results support the notion that PSNLI is the major gene involved in autosomal dominant EOAD.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/4.12.2373