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Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.
- Source :
-
JIMD reports [JIMD Rep] 2015 Oct 17, pp. . Date of Electronic Publication: 2015 Oct 17. - Publication Year :
- 2015
- Publisher :
- Ahead of Print
-
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.
Details
- Language :
- English
- ISSN :
- 2192-8304
- Database :
- MEDLINE
- Journal :
- JIMD reports
- Publication Type :
- Academic Journal
- Accession number :
- 26475292
- Full Text :
- https://doi.org/10.1007/8904_2015_499