Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease

Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease

ABSTRACT: Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurate diagnostic reporting of uninterrupted CAG repea...

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Bibliographic Details
Main Authors: Hailey Findlay Black, Chris Kay, Jessica Dawson, Stephanie Bortnick, Kyla Javier, Qingwen Xia, Cheuk Hin Chau, Tess Leavitt, Larissa Arning, Huu Phuc Nguyen, Michael R. Hayden
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Subjects:
Genetic modifiers
Huntington disease
Loss of interruption
Triplet-primed PCR
Variant screening
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424010288

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http://www.sciencedirect.com/science/article/pii/S2949774424010288

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