Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect-Reference-Cited by-同舟云学术

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Published:2020-09-28 Issue:2 Volume:44 Page:415-425
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Bérat Claire‐Marine¹²³,Montealegre Sebastian¹³,Wiedemann Arnaud⁴,Nuzum Malou Le Corronc¹,Blondel Amélie⁵,Debruge Hugo¹,Cano Aline⁶,Chabrol Brigitte⁶,Hoebeke Célia⁶,Polak Michel²⁷,Stoupa Athanasia²⁷,Feillet François⁴,Torre Stéphanie⁸,Boddaert Nathalie²⁹,Bruel Henri¹⁰,Barth Magalie¹¹,Damaj Lena¹²,Abi‐Wardé Marie‐Thérèse¹³,Afenjar Alexandra¹⁴,Benoist Jean‐François⁵,Madrange Marine¹³,Caccavelli Laure¹³,Renard Perrine¹,Hubas Arnaud¹⁵,Nusbaum Patrick¹⁵,Pontoizeau Clément⁵,Gobin Stéphanie¹⁶,Endert Peter¹²,Ottolenghi Chris⁵,Maltret Alice¹⁷,Lonlay Pascale¹²³^ORCID

Affiliation:

1. Inserm U1151 Institut Necker Enfants‐Malades Paris France

2. Université de Paris Paris France

3. Reference Center of inherited Metabolic Diseases Necker‐Enfants‐Malades University hospital, APHP, Imagine Institute, Filière G2M Paris France

4. Department of Pediatric Intensive Care Reference Center of Inherited Metabolic Disorders, INSERM U1256, Nancy Hospital Nancy France

5. Department of Biochemistry Necker‐Enfants‐Malades University Hospital, APHP, Filière G2M Paris France

6. Reference Center of Inherited Metabolic Disorders La Timone Hospital, Filière G2M Marseille France

7. Endocrinology Unit Reference Center of Rare Endocrine Diseases of Growth and Development, Necker‐Enfants‐Malades, University hospital, APHP, Imagine Institute Paris France

8. Competence Center of Inherited Metabolic Disorders Rouen Hospital, Filière G2M Rouen France

9. Paediatric Radiology Department Necker‐Enfants‐Malades University hospital, APHP and INSERM U1163, Imagine Institute Paris France

10. Pediatrics Department Le Havre Hospital Le Havre France

11. Pediatrics Department Angers Hospital Angers France

12. Pediatrics Department Rennes Hospital Rennes France

13. Pediatrics Department Strasbourg Hospital Strasbourg France

14. Reference Center of Cerebellar Malformations and Congenital Diseases Trousseau Hospital, APHP Paris France

15. Genetics and Molecular Biology Laboratoire de culture cellulaire, Hôpital Cochin Paris France

16. Genetics Department Necker‐Enfants‐Malades University Hospital, APHP Paris France

17. Cardiology Unit Necker‐Enfants‐Malades University Hospital, APHP Paris France

Funder

Agence Nationale de la Recherche

Association Française contre les Myopathies

Fondation Jérôme Lejeune

Fondation Maladies Rares

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12314

Reference18 articles.

1. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

2. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

3. Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report

4. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

5. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

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