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Collet, M.* ; Assouline, Z.* ; Bonnet, D.* ; Rio, M.* ; Iserin, F.* ; Sidi, D.* ; Goldenberg, A.* ; Lardennois, C.* ; Metodiev, M.D.* ; Haberberger, B. ; Haack, T.B. ; Munnich, A.* ; Prokisch, H. ; Rotig, A.*

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Eur. J. Hum. Genet., DOI: 10.1038/ejhg.2015.264 (2015)
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Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children with cardiac hypertrophy and isolated complex I deficiency and identified compound heterozygosity for missense, splice site or frame shift ACAD9 variants in 8/20 patients (40%). Age at onset ranged from neonatal period to 9 years and 5/8 died in infancy. Heart transplantation was possible in 3/8. Two of them survived and one additional patient improved spontaneously. Importantly, the surviving patients later developed delayed-onset neurologic or muscular symptoms, namely cognitive impairment, seizures, muscle weakness and exercise intolerance. Other organ involvement included proximal tubulopathy, renal failure, secondary ovarian failure and optic atrophy. We conclude that ACAD9 mutation is the most frequent cause of cardiac hypertrophy and isolated complex I deficiency. Heart transplantation in children surviving neonatal period should be considered with caution, as delayed-onset muscle and brain involvement of various severity may occur, even if absent prior to transplantation.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Sprache
Veröffentlichungsjahr 2015
HGF-Berichtsjahr 2016
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Zeitschrift European Journal of Human Genetics
Verlag Nature Publishing Group
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500700-001
DOI 10.1038/ejhg.2015.264
PubMed ID 26669660
Erfassungsdatum 2016-12-31
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