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  Rare autosomal copy number variations in early-onset familial Alzheimer's disease

Hooli, B. V., Kovacs-Vajna, Z. M., Mullin, K., Blumenthal, M. A., Mattheisen, M., Zhang, C., et al. (2014). Rare autosomal copy number variations in early-onset familial Alzheimer's disease. Molecular Psychiatry, 19(6), 676-681. doi:10.1038/mp.2013.77.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-DE83-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-B286-2
Genre: Journal Article

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2013 Macmillan Publishers Limited
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Hooli, B. V., Author
Kovacs-Vajna, Z. M., Author
Mullin, K., Author
Blumenthal, M. A., Author
Mattheisen, M., Author
Zhang, C., Author
Lange, C., Author
Mohapatra, G., Author
Bertram, L.1, Author              
Tanzi, R. E., Author
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              

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 Abstract: Over 200 rare and fully penetrant pathogenic mutations in amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2) cause a subset of early-onset familial Alzheimer's disease (EO-FAD). Of these, 21 cases of EO-FAD families carrying unique APP locus duplications remain the only pathogenic copy number variations (CNVs) identified to date in Alzheimer's disease (AD). Using high-density DNA microarrays, we performed a comprehensive genome-wide analysis for the presence of rare CNVs in 261 EO-FAD and early/mixed-onset pedigrees. Our analysis revealed 10 novel private CNVs in 10 EO-FAD families overlapping a set of genes that includes: A2BP1, ABAT, CDH2, CRMP1, DMRT1, EPHA5, EPHA6, ERMP1, EVC, EVC2, FLJ35024 and VLDLR. In addition, CNVs encompassing two known frontotemporal dementia genes, CHMP2B and MAPT were found. To our knowledge, this is the first study reporting rare gene-rich CNVs in EO-FAD and early/mixed-onset AD that are likely to underlie pathogenicity in familial AD and perhaps related dementias.Molecular Psychiatry advance online publication, 11 June 2013; doi:10.1038/mp.2013.77.

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Language(s): eng - English
 Dates: 2013-03-192013-01-242013-04-152013-06-112014-06
 Publication Status: Published in print
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 Rev. Method: Peer
 Identifiers: DOI: 10.1038/mp.2013.77
ISSN: 1476-5578 (Electronic)1359-4184 (Print)
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Title: Molecular Psychiatry
Source Genre: Journal
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Publ. Info: Houndmills, Hampshire, UK : Stockton Press
Pages: - Volume / Issue: 19 (6) Sequence Number: - Start / End Page: 676 - 681 Identifier: ISSN: 1359-4184
CoNE: https://pure.mpg.de/cone/journals/resource/954925619131