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Article

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia.

Human molecular genetics - 10 Feb 2026

Devore Morgan C, Lam Christina, Wiley Graham, Park Courtney C, Lynch David R, Bidichandani Sanjay I

Abstract excerpt

Many diseases are caused by pathogenic expansion of microsatellite repeats. Longread sequencing allows evaluation of the content of such expanded repeats. Friedreich ataxia patients are typically homozygous for an expanded GAA repeat in intron 1 of the FXN gene. Longread whole genome sequencing identified expanded composite alleles, consisting of substantial tracks of tandem GGA triplets within the expanded GAA...

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Identifiers

PMID: 41432640
DOI: 10.1093/hmg/ddaf190
PMCID: PMC13158230

Genes

GAA
FXN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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