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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R. Sharkia R, et al. J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28. J Inherit Metab Dis. 2019. PMID: 30689204
A homozygous pathogenic variant in the ACO2 gene was initially described in 2012 resulting in a novel disorder termed "infantile cerebellar retinal degeneration" (ICRD, OMIM#614559). Subsequently, additional studies reported patients with pathogenic AC …
A homozygous pathogenic variant in the ACO2 gene was initially described in 2012 resulting in a novel disorder termed "infantile c …
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA. Gibson S, et al. Am J Med Genet A. 2020 Aug;182(8):1960-1966. doi: 10.1002/ajmg.a.61634. Epub 2020 May 25. Am J Med Genet A. 2020. PMID: 32449285
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 atr …
Biallelic variants in ACO2 are purported to cause two distinct disorders: infantile cerebellar-retinal degeneration …
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH. Sadat R, et al. Mol Genet Metab. 2016 May;118(1):28-34. doi: 10.1016/j.ymgme.2016.03.004. Epub 2016 Mar 8. Mol Genet Metab. 2016. PMID: 26992325 Free PMC article.
Pathogenic variants in ACO2 have been described in a handful of families as the cause of infantile cerebellar-retinal degeneration syndrome. Using biochemical and cellular assays in patient fibroblasts, we found that ACO2 expression was quantitatively …
Pathogenic variants in ACO2 have been described in a handful of families as the cause of infantile cerebellar-retinal …