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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Nicolas, Gaël, Wallon, David, Charbonnier, Camille, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Rovelet-Lecrux, Anne, Coutant, Sophie, Le Guennec, Kilan, Bacq, Delphine, Garnier, Jean-Guillaume, Olaso, Robert, Boland, Anne, Meyer, Vincent, Deleuze, Jean-François, Munter, Hans Markus, Bourque, Guillaume, Auld, Daniel, Montpetit, Alexandre, Lathrop, Mark, Guyant-Maréchal, Lucie, Martinaud, Olivier, Pariente, Jérémie, Rollin-Sillaire, Adeline, Pasquier, Florence, Le Ber, Isabelle, Sarazin, Marie, Croisile, Bernard, Boutoleau-Bretonnière, Claire, Thomas-Antérion, Catherine, Paquet, Claire, Sauvée, Mathilde, Moreaud, Olivier, Gabelle, Audrey, Sellal, François, Ceccaldi, Mathieu, Chamard, Ludivine, Blanc, Frédéric, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier·2016·European Journal of Human Genetics
DOI 10.1038/ejhg.2015.173
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Crossref · 10.1038/ejhg.2015.173

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  • Whole exome sequencing of the parental hiPSC line confirmed the absence of rare coding variants in SORL1, APP, PSEN1, PSEN2, TREM2, ABCA7 and other genes causing Mendelian forms of dementia.

    “Whole exome sequencing of the parental hiPSC line confirmed the absence of rare coding variants in the SORL1 gene, as well as in APP, PSEN1, PSEN2, TREM2, ABCA7 and other genes causing Mendelian forms of dementia [30].”

    From Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease (2021) · cites this paper as [30]

    The Whole-exome sequencing section describes screening APP, PSEN1, PSEN2, TREM2 and other dementia genes, supporting part of the cited gene list. It does not report sequencing a parental hiPSC line or establish that this line lacks rare coding variants; the cited passages also do not establish SORL1 or ABCA7 as part of its screened gene list. (LLM, conf=0.82)

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Research works printed but not linked: 38

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Metadata

Authors
Nicolas, G., Wallon, D., Charbonnier, C., Quenez, O., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., Coutant, S., Le Guennec, K., Bacq, D., Garnier, J.-G., Olaso, R., Boland, A., Meyer, V., Deleuze, J.-F., Munter, H. M., Bourque, G., Auld, D., Montpetit, A., Lathrop, M., Guyant-Maréchal, L., Martinaud, O., Pariente, J., Rollin-Sillaire, A., Pasquier, F., Le Ber, I., Sarazin, M., Croisile, B., Boutoleau-Bretonnière, C., Thomas-Antérion, C., Paquet, C., Sauvée, M., Moreaud, O., Gabelle, A., Sellal, F., Ceccaldi, M., Chamard, L., Blanc, F., Frebourg, T., Campion, D., & Hannequin, D.
Venue
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2015-08-05
Volume
24
Issue
5
Pages
710-716
ISSN
  • 1018-4813
  • 1476-5438
DOI
10.1038/ejhg.2015.173
Cited by
89
References
4
Language
en
Licence
www.springer.com/tdm (tdm)

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