Genetic modifiers of repeat expansion disorders.

doi:10.1042/ETLS20230015

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Article

Genetic modifiers of repeat expansion disorders.

Emerging topics in life sciences - 14 Dec 2023

Rajagopal Sangeerthana, Donaldson Jasmine, Flower Michael, Hensman Moss Davina J, Tabrizi Sarah J

Abstract excerpt

Repeat expansion disorders (REDs) are monogenic diseases caused by a sequence of repetitive DNA expanding above a pathogenic threshold. A common feature of the REDs is a strong genotype-phenotype correlation in which a major determinant of age at onset (AAO) and disease progression is the length of the inherited repeat tract. Over a disease-gene carrier's life, the length of the repeat can expand in somatic...

Topics

Mice
Animals
Humans
Trinucleotide Repeat Expansion
Age of Onset
Genetic Association Studies
Phenotype
Disease Progression

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PMID: 37861103
DOI: 10.1042/ETLS20230015
PMCID: PMC10754329

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