Chapter title |
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
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Chapter number | 499 |
Book title |
JIMD Reports, Volume 28
|
Published in |
JIMD Reports, January 2015
|
DOI | 10.1007/8904_2015_499 |
Pubmed ID | |
Book ISBNs |
978-3-66-252846-4, 978-3-66-252847-1
|
Authors |
Jennifer Lagoutte-Renosi, Isabelle Ségalas-Milazzo, Marie Crahes, Florian Renosi, Laurence Menu-Bouaouiche, Stéphanie Torre, Caroline Lardennois, Marlène Rio, Stéphane Marret, Carole Brasse-Lagnel, Annie Laquerrière, Soumeya Bekri, Lagoutte-Renosi, Jennifer, Ségalas-Milazzo, Isabelle, Crahes, Marie, Renosi, Florian, Menu-Bouaouiche, Laurence, Torre, Stéphanie, Lardennois, Caroline, Rio, Marlène, Marret, Stéphane, Brasse-Lagnel, Carole, Laquerrière, Annie, Bekri, Soumeya |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 9 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 5 | 56% |
Student > Ph. D. Student | 2 | 22% |
Student > Master | 1 | 11% |
Unknown | 1 | 11% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 2 | 22% |
Nursing and Health Professions | 2 | 22% |
Agricultural and Biological Sciences | 2 | 22% |
Medicine and Dentistry | 2 | 22% |
Unknown | 1 | 11% |