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Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model.

Clinical genetics - 1 Sept 2025

Buhl Edgar, Garg Suchika, Monaghan Marie, Preston Amy, Likeman Marcus, Dare Julianne, Evans Julie, Taylor Lucie S, Berry Ian, Urankar Kathryn, Spry Paul G D, Williams Cathy, Taylor Robert W, Alston Charlotte L, Hodge James J L, Majumdar Anirban

Abstract excerpt

Infantile Cerebellar-Retinal Degeneration (ICRD) is an autosomal recessive neuro-disability associated with hypotonia, seizures, optic atrophy, and retinal degeneration. Recessive variants of the mitochondrial aconitase gene (ACO2) are a known cause of ICRD. Here, we present a paediatric male patient with ICRD, where whole genome sequencing of the family trio revealed segregating heterozygous variants of unknown...

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Identifiers

PMID: 40210596
DOI: 10.1111/cge.14745
PMCID: PMC12319146

Genes

ACO2

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