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

doi:10.1038/353844a0

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

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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 disease^1-4. 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 language	English (US)
Pages (from-to)	844-846
Number of pages	3
Journal	Nature
Volume	353
Issue number	6347
DOIs	https://doi.org/10.1038/353844a0
State	Published - 1991
Externally published	Yes

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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",

doi = "10.1038/353844a0",

language = "English (US)",

volume = "353",

pages = "844--846",

journal = "Nature",

issn = "0028-0836",

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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

Y1 - 1991

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.

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DO - 10.1038/353844a0

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JF - Nature

IS - 6347

ER -

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

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