Article
FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution.
Human molecular genetics - 9 Jun 2026
Devore Morgan C, Lam Christina, Xiao Emily, Devore Jeremy, McCain Kassandra R C, Wiley Graham, Park Courtney C, Lynch David R, Bidichandani Sanjay I
Abstract excerpt
Friedreich ataxia (FRDA) is a recessive condition that is typically caused by inheriting an expanded GAA repeat (usually > 500 triplets) in the FXN gene from both parents who are heterozygous carriers of the expanded (E) allele. E alleles, which are evolutionarily derived from non-pathogenic long normal (LN) alleles (≥12 triplets), occasionally arise de novo via intergenerational expansion of premutation alleles...
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