Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

Marie Christine Chartier-Harlin, Fiona Crawford, Henry Houlden, Andrew Warren, David Hughes, Liana Fidani, Alison Goate, Martin Rossor, Penelope Roques, John Hardy, Mike Mullan

Research output: Contribution to journalArticle

Abstract

A mutation at codon 717 of the β-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family1. This mutation has been reported in a further five out of ∼100 families multiply affected by Alzheimer's disease1-4. We have identified another family, F19, in which we have detected linkage between the β-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val → Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.

Original languageEnglish (US)
Pages (from-to)844-846
Number of pages3
JournalNature
Volume353
Issue number6347
StatePublished - Oct 31 1991

Fingerprint

Amyloid beta-Protein Precursor
Codon
Alzheimer Disease
Mutation
Genes
Exons
Phenotype

ASJC Scopus subject areas

  • General

Cite this

Chartier-Harlin, M. C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., ... Mullan, M. (1991). Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature, 353(6347), 844-846.

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. / Chartier-Harlin, Marie Christine; Crawford, Fiona; Houlden, Henry; Warren, Andrew; Hughes, David; Fidani, Liana; Goate, Alison; Rossor, Martin; Roques, Penelope; Hardy, John; Mullan, Mike.

In: Nature, Vol. 353, No. 6347, 31.10.1991, p. 844-846.

Research output: Contribution to journalArticle

Chartier-Harlin, MC, Crawford, F, Houlden, H, Warren, A, Hughes, D, Fidani, L, Goate, A, Rossor, M, Roques, P, Hardy, J & Mullan, M 1991, 'Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene', Nature, vol. 353, no. 6347, pp. 844-846.
Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature. 1991 Oct 31;353(6347):844-846.
Chartier-Harlin, Marie Christine ; Crawford, Fiona ; Houlden, Henry ; Warren, Andrew ; Hughes, David ; Fidani, Liana ; Goate, Alison ; Rossor, Martin ; Roques, Penelope ; Hardy, John ; Mullan, Mike. / Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. In: Nature. 1991 ; Vol. 353, No. 6347. pp. 844-846.
@article{2298c754b64f4cb892829e13692e60c3,
title = "Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene",
abstract = "A mutation at codon 717 of the β-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family1. This mutation has been reported in a further five out of ∼100 families multiply affected by Alzheimer's disease1-4. We have identified another family, F19, in which we have detected linkage between the β-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val → Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.",
author = "Chartier-Harlin, {Marie Christine} and Fiona Crawford and Henry Houlden and Andrew Warren and David Hughes and Liana Fidani and Alison Goate and Martin Rossor and Penelope Roques and John Hardy and Mike Mullan",
year = "1991",
month = "10",
day = "31",
language = "English (US)",
volume = "353",
pages = "844--846",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6347",

}

TY - JOUR

T1 - Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

AU - Chartier-Harlin, Marie Christine

AU - Crawford, Fiona

AU - Houlden, Henry

AU - Warren, Andrew

AU - Hughes, David

AU - Fidani, Liana

AU - Goate, Alison

AU - Rossor, Martin

AU - Roques, Penelope

AU - Hardy, John

AU - Mullan, Mike

PY - 1991/10/31

Y1 - 1991/10/31

N2 - A mutation at codon 717 of the β-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family1. This mutation has been reported in a further five out of ∼100 families multiply affected by Alzheimer's disease1-4. We have identified another family, F19, in which we have detected linkage between the β-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val → Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.

AB - A mutation at codon 717 of the β-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family1. This mutation has been reported in a further five out of ∼100 families multiply affected by Alzheimer's disease1-4. We have identified another family, F19, in which we have detected linkage between the β-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 (ref. 5) in affected individuals from this family has revealed a base change producing a Val → Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.

UR - http://www.scopus.com/inward/record.url?scp=0026075602&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026075602&partnerID=8YFLogxK

M3 - Article

C2 - 1944558

AN - SCOPUS:0026075602

VL - 353

SP - 844

EP - 846

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6347

ER -