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Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

Abstract : ACAD9 (acyl-CoA dehydrogenase 9) is an essential factor for the mitochondrial respiratory chain complex I assembly. ACAD9, a member of acyl-CoA dehydrogenase family, has high homology with VLCAD (very long-chain acyl-CoA dehydrogenase) and harbors a homodimer structure. Recently, patients with ACAD9 deficiency have been described with a wide clinical spectrum ranging from severe lethal form to moderate form with exercise intolerance. We report here a prenatal presentation with intrauterine growth retardation and cardiomegaly, with a fatal outcome shortly after birth. Compound heterozygous mutations, a splice-site mutation – c.1030-1G>T and a missense mutation – c.1249C>T; p.Arg417Cys, were identified in the ACAD9 gene. Their effect on protein structure and expression level was investigated. Protein modeling suggested a functional effect of the c.1030-1G>T mutation generating a non-degraded truncated protein and the p.Arg417Cys, creating an aberrant dimer. Our results underscore the crucial role of ACAD9 protein for cardiac function.
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Contributor : Madeleine ROUX-MERLIN Connect in order to contact the contributor
Submitted on : Friday, February 22, 2019 - 3:36:52 PM
Last modification on : Friday, October 21, 2022 - 4:06:45 AM

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Jennifer Lagoutte-Renosi, Isabelle Ségalas-Milazzo, Marie Crahes, Florian Renosi, Laurence Menu-Bouaouiche, et al.. Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. Journal of Inherited Metabolic Disease, 2016, 28, pp.1-10. ⟨10.1007/8904_2015_499⟩. ⟨hal-02046219⟩



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