Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

doi:10.1016/j.ajhg.2025.05.007

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Article

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

American journal of human genetics - 3 Jul 2025

Antonicka Hana, Weraarpachai Woranontee, Szigety Katherine M, Kopajtich Robert, Gibson James B, Van Hove Johan L K, Friederich Marisa W, Lopriore Piervito, Neuhofer Christiane, Van Hove Roxanne A, Cole Michel A, Reisdorph Richard, Peterson James T, Dempsey Katherine J, Ganetzky Rebecca D, Mancuso Michelangelo, Prokisch Holger, Shoubridge Eric A

Abstract excerpt

Using exome sequencing, we identified compound heterozygous variants of unknown significance in FASTKD5, a gene that codes for a mitochondrial protein essential for processing mRNAs at non-canonical cleavage sites in the primary mitochondrial transcript, in three subjects with Leigh syndrome, a progressive neurodegenerative disease characterized by lesions in the brainstem and basal ganglia. Among the three...

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Identifiers

PMID: 40499538
DOI: 10.1016/j.ajhg.2025.05.007
PMCID: PMC12256832

Genes

FASTKD5

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