A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

Emma Ehn; Jesper Eisfeldt; Jose M. Laffita-Mesa; Hakan Thonberg; Jacqueline Schoumans; Anne M. Portaankorva; Matti Viitanen; Anna Lindstrand; Inger Nennesemo; Caroline Graff

doi:10.1038/s41598-025-86645-0

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

Emma Ehn, Jesper Eisfeldt, Jose M. Laffita-Mesa, Hakan Thonberg, Jacqueline Schoumans, Anne M. Portaankorva, Matti Viitanen, Anna Lindstrand, Inger Nennesemo, Caroline Graff

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	2912
Tidskrift	Scientific Reports
Volym	15
Nummer	1
Antal sidor	14
ISSN	2045-2322
DOI	https://doi.org/10.1038/s41598-025-86645-0
Status	Publicerad - 23 jan. 2025
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Bibliografisk information

Correction: DOI 10.1038/s41598-025-94140-9

Vetenskapsgrenar

3112 Neurovetenskaper

Åtkomst av dokument

10.1038/s41598-025-86645-0

s41598-025-86645-0Slutlig publicerad version, 2,55 MBLicens: CC BY
Correction s41598-025-94140-9Slutlig publicerad version, 785 KBLicens: CC BY

Citera det här

Ehn, E., Eisfeldt, J., Laffita-Mesa, J. M., Thonberg, H., Schoumans, J., Portaankorva, A. M., Viitanen, M., Lindstrand, A., Nennesemo, I., & Graff, C. (2025). A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease. Scientific Reports, 15(1), Artikel 2912. https://doi.org/10.1038/s41598-025-86645-0

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title = "A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease",

keywords = "Amyloid-beta precursor protein gene (<italic>APP</italic>), Autosomal dominant Alzheimer disease (ADAD), Cerebral amyloid angiopathy (CAA), Complex genomic rearrangement (CGR), Mosaicism, Structural variant (SV)., 3112 Neurosciences",

author = "Emma Ehn and Jesper Eisfeldt and Laffita-Mesa, {Jose M.} and Hakan Thonberg and Jacqueline Schoumans and Portaankorva, {Anne M.} and Matti Viitanen and Anna Lindstrand and Inger Nennesemo and Caroline Graff",

note = "Correction: DOI 10.1038/s41598-025-94140-9",

year = "2025",

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Ehn, E, Eisfeldt, J, Laffita-Mesa, JM, Thonberg, H, Schoumans, J, Portaankorva, AM, Viitanen, M, Lindstrand, A, Nennesemo, I & Graff, C 2025, 'A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease', Scientific Reports, vol. 15, nr. 1, 2912. https://doi.org/10.1038/s41598-025-86645-0

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T1 - A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

AU - Ehn, Emma

AU - Eisfeldt, Jesper

AU - Laffita-Mesa, Jose M.

AU - Thonberg, Hakan

AU - Schoumans, Jacqueline

AU - Portaankorva, Anne M.

AU - Viitanen, Matti

AU - Lindstrand, Anna

AU - Nennesemo, Inger

AU - Graff, Caroline

N1 - Correction: DOI 10.1038/s41598-025-94140-9

PY - 2025/1/23

Y1 - 2025/1/23

KW - Amyloid-beta precursor protein gene (<italic>APP</italic>)

KW - Autosomal dominant Alzheimer disease (ADAD)

KW - Cerebral amyloid angiopathy (CAA)

KW - Complex genomic rearrangement (CGR)

KW - Mosaicism

KW - Structural variant (SV).

KW - 3112 Neurosciences

U2 - 10.1038/s41598-025-86645-0

DO - 10.1038/s41598-025-86645-0

M3 - Article

C2 - 39849058

SN - 2045-2322

VL - 15

JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 2912

ER -