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Article

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

American journal of medical genetics. Part A - 1 Aug 2020

Gibson Shelley, Azamian Mahshid S, Lalani Seema R, Yen Kimberly G, Sutton V Reid, Scott Daryl A

Abstract excerpt

The mitochondrial aconitase gene (ACO2) encodes an enzyme that catalyzes the conversion of citrate to isocitrate in the tricarboxylic acid cycle. Biallelic variants in ACO2 are purported to cause two distinct disorders: infantile cerebellar-retinal degeneration (ICRD) which is characterized by CNS abnormalities, neurodevelopmental phenotypes, optic atrophy and retinal degeneration; and optic atrophy 9 (OPA9),...

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PMID: 32449285
DOI: 10.1002/ajmg.a.61634

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