Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Abstract Background Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases, are too long to sequence usi...

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Bibliographic Details
Main Authors: Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Molecular Neurodegeneration
Subjects:
C9orf72
GGGGCC
Repeat expansion disorders
Structural mutations
Amyotrophic lateral sclerosis (ALS)
Frontotemporal dementia (FTD)
Online Access:http://link.springer.com/article/10.1186/s13024-018-0274-4

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http://link.springer.com/article/10.1186/s13024-018-0274-4

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