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Article

ACO2 clinicobiological dataset with extensive phenotype ontology annotation.

Scientific data - 5 Aug 2021

Guehlouz Khadidja, Foulonneau Thomas, Amati-Bonneau Patrizia, Charif Majida, Colin Estelle, Bris Céline, Desquiret-Dumas Valérie, Milea Dan, Gohier Philippe, Procaccio Vincent, Bonneau Dominique, den Dunnen Johan T, Lenaers Guy, Reynier Pascal, Ferré Marc

Abstract excerpt

Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission. We created the first public locus-specific database (LSDB) dedicated to ACO2 within the "Global Variome shared LOVD" using exclusively...

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Identifiers

PMID: 34354088
DOI: 10.1038/s41597-021-00984-x
PMCID: PMC8342444

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