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Article

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

Annals of clinical and translational neurology - 1 Jun 2020

Blackburn Patrick R, Schultz Matthew J, Lahner Carrie A, Li Dong, Bhoj Elizabeth, Fisher Laura J, Renaud Deborah L, Kenney Amy, Ibrahim Niema, Hashem Mais, Zain Seidahmed Mohammed, Hasadsri Linda, Schrier Vergano Samantha A, Alkuraya Fowzan S, Lanpher Brendan C

Abstract excerpt

OBJECTIVE: We describe the clinical characteristics and genetic etiology of several new cases within the ACO2-related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear-encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and...

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Identifiers

PMID: 32519519
DOI: 10.1002/acn3.51074
PMCID: PMC7318087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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