APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
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BACKGROUND: Amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) mutations cause autosomal dominant forms of early-onset Alzheimer disease (AD-EOAD). Although these genes were identified in the 1990s, variant classification remains a challenge, highlighting the need to colligate mutations from large series. METHODS AND FINDINGS: We report here a novel update (2012-2016) of the genetic screening of the large AD-EOAD series ascertained across 28 French hospitals from 1993 onwards, bringing the total number of families with identified mutations to n = 170. Families were included when at least two first-degree relatives suffered from early-onset Alzheimer disease (EOAD) with an age of onset (AOO) ≤65 y in two generations. Furthermore, we also screened 129 sporadic cases of Alzheimer disease with an AOO below age 51 (44% males, mean AOO = 45 ± 2 y). APP, PSEN1, or PSEN2 mutations were identified in 53 novel AD-EOAD families. Of the 129 sporadic cases screened, 17 carried a PSEN1 mutation and 1 carried an APP duplication (13%). Parental DNA was available for 10 sporadic mutation carriers, allowing us to show that the mutation had occurred de novo in each case. Thirteen mutations (12 in PSEN1 and 1 in PSEN2) identified either in familial or in sporadic cases were previously unreported. Of the 53 mutation carriers with available cerebrospinal fluid (CSF) biomarkers, 46 (87%) had all three CSF biomarkers-total tau protein (Tau), phospho-tau protein (P-Tau), and amyloid β (Aβ)42-in abnormal ranges. No mutation carrier had the three biomarkers in normal ranges. One limitation of this study is the absence of functional assessment of the possibly and probably pathogenic variants, which should help their classification. CONCLUSIONS: Our findings suggest that a nonnegligible fraction of PSEN1 mutations occurs de novo, which is of high importance for genetic counseling, as PSEN1 mutational screening is currently performed in familial cases only. Among the 90 distinct mutations found in the whole sample of families and isolated cases, definite pathogenicity is currently established for only 77%, emphasizing the need to pursue the effort to classify variants.
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Mutations in PS1 and PS2 primarily alter APP γ-cleavage, resulting in a decreased Aβ40/42 ratio.
“Mutations in PS1 and PS2 primarily alter APP γ-cleavage, thereby resulting in a decreased Aβ40/42 ratio.”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [37]
De novo variants in APP, PSEN1, and PSEN2 have been identified by sequencing in sporadic cases of EOAD that occur with no family history of disease.
“Although causal variants in these genes are typically thought to be inherited in an autosomal dominant fashion, de novo variants in APP, PSEN1, and PSEN2 have also been identified by sequencing in sporadic cases of EOAD that occur with no family history of disease [158, 159].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [158]
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“…in these genes are typically thought to be inherited in an autosomal dominant fashion, de novo variants in APP, PSEN1, and PSEN2 have also been identified by sequencing in sporadic cases of EOAD that occur with no family history of disease (Lanoiselee et al., 2017; Rovelet-Lecrux et al., 2015).”
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- Authors
- Lanoiselée, H.-M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.-C., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., Quillard-Muraine, M., de la Sayette, V., Boutoleau-Bretonniere, C., Etcharry-Bouyx, F., Chauviré, V., Sarazin, M., le Ber, I., Epelbaum, S., Jonveaux, T., Rouaud, O., Ceccaldi, M., Félician, O., Godefroy, O., Formaglio, M., Croisile, B., Auriacombe, S., Chamard, L., Vincent, J.-L., Sauvée, M., Marelli-Tosi, C., Gabelle, A., Ozsancak, C., Pariente, J., Paquet, C., Hannequin, D., Campion, D., & collaborators of the CNR-MAJ project
- Affiliations
- Inserm (FR)
- Centre Hospitalier Universitaire d'Angers (FR)
- Centre Hospitalier Sainte-Anne (FR)
- Centre National de la Recherche Scientifique (FR)
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- CHU Dijon Bourgogne (FR)
- Centre Hospitalier Universitaire Amiens-Picardie (FR)
- Hospices Civils de Lyon (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Centre Hospitalier Universitaire de Toulouse (FR)
- Corresponding author
- Campion, Dominique
- ORCID
- Venue
- PLOS Medicine
- Publisher
- Public Library of Science (PLoS)
- Published
- 2017-03-28
- Volume
- 14
- Issue
- 3
- Pages
- e1002270
- ISSN
- 1549-1277 (ISSN-L)
- 1549-1676
- PMC
- PMC5370101
- OpenAlex
- W2600872530
- Cited by
- 616
- References
- 44
- Citations by year
- 2026: 58 · 2025: 102 · 2024: 94 · 2023: 75 · 2022: 79 · 2021: 64 · 2020: 58 · 2019: 41 · 2018: 34 · 2017: 9
- FWCI
- 28.74
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- LillOA (Université de Lille (University Of Lille)) (submittedVersion, cc-by)
- Funders
- Clinical Research Hospital Program from the French Ministry of Health (GMAJ 2008/067)
- French Ministry of Health (CNR-MAJ)
- European Union (JPND PERADES, ANR-13-JPRF-0001-04)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- early-onset Alzheimer's disease, APP mutations, PSEN1 mutations, PSEN2 mutations, presenilin, amyloid precursor protein, novel mutations, de novo mutations, sporadic Alzheimer's disease, familial Alzheimer's disease, genetic screening, variant interpretation, cerebrospinal fluid biomarkers, total tau, phosphorylated tau, amyloid-beta 42, genetic counseling, mutation carriers
- MeSH terms
- Adult, Alzheimer Disease, Female, France, Genetic Testing, Humans, Male, Middle Aged, Mutation, Amyloid beta-Protein Precursor, Age of Onset, Presenilin-1, Presenilin-2
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