A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely rarely reported principally in patients with ca...
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2019-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919301600 |
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doaj-6e27b69371a24ed1a576565432330bb42020-11-24T22:08:40ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-12-0121A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signsKonstantina Fragaki0Annabelle Chaussenot1Valerie Serre2Cecile Acquaviva3Sylvie Bannwarth4Cecile Rouzier5Brigitte Chabrol6Veronique Paquis-Flucklinger7Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, FranceUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, FranceUMR7592 CNRS, Institut Jacques Monod, Université Paris Diderot, Nice, FranceDepartment of Inborn Errors of Metabolism and Neonatal Screening, Center of Biology and Pathology Est CHU, Lyon Bron, FranceUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, FranceUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, FranceDepartment of Neuropediatrics, Timone Hospital, CHU, Marseille, FranceUniversité Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France; Corresponding author at: IRCAN UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, 28 av de Valombrose, 06107 Nice cedex 2, France.Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely rarely reported principally in patients with cardiomyopathy. Here, we report a novel m.8561 C>T substitution in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset ataxia, psychomotor delay and microcephaly, enlarging the clinical manifestations spectrum associated with CV deficiency. Keywords: Mitochondrial disorders, ATP synthase, Ataxia, Psychomotor delay, Microcephalyhttp://www.sciencedirect.com/science/article/pii/S2214426919301600 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Konstantina Fragaki Annabelle Chaussenot Valerie Serre Cecile Acquaviva Sylvie Bannwarth Cecile Rouzier Brigitte Chabrol Veronique Paquis-Flucklinger |
| spellingShingle |
Konstantina Fragaki Annabelle Chaussenot Valerie Serre Cecile Acquaviva Sylvie Bannwarth Cecile Rouzier Brigitte Chabrol Veronique Paquis-Flucklinger A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs Molecular Genetics and Metabolism Reports |
| author_facet |
Konstantina Fragaki Annabelle Chaussenot Valerie Serre Cecile Acquaviva Sylvie Bannwarth Cecile Rouzier Brigitte Chabrol Veronique Paquis-Flucklinger |
| author_sort |
Konstantina Fragaki |
| title |
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs |
| title_short |
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs |
| title_full |
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs |
| title_fullStr |
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs |
| title_full_unstemmed |
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs |
| title_sort |
novel variant m.8561c>t in the overlapping region of mt-atp6 and mt-atp8 in a child with early-onset severe neurological signs |
| publisher |
Elsevier |
| series |
Molecular Genetics and Metabolism Reports |
| issn |
2214-4269 |
| publishDate |
2019-12-01 |
| description |
Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely rarely reported principally in patients with cardiomyopathy. Here, we report a novel m.8561 C>T substitution in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset ataxia, psychomotor delay and microcephaly, enlarging the clinical manifestations spectrum associated with CV deficiency. Keywords: Mitochondrial disorders, ATP synthase, Ataxia, Psychomotor delay, Microcephaly |
| url |
http://www.sciencedirect.com/science/article/pii/S2214426919301600 |
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