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

Abstract Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) a...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	Emma Ehn, Jesper Eisfeldt, Jose M. Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans, Anne M. Portaankorva, Matti Viitanen, Anna Lindstrand, Inger Nennesmo, Caroline Graff
Format:	Article
Language:	English
Published:	Nature Portfolio 2025-01-01
Subjects:	Autosomal dominant Alzheimer disease (ADAD) Amyloid-β precursor protein gene (APP) Cerebral amyloid angiopathy (CAA) Complex genomic rearrangement (CGR) Mosaicism Structural variant (SV).
Online Access:	https://doi.org/10.1038/s41598-025-86645-0