MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Author:

El-Hattab Ayman W.1ORCID,Wang Julia2,Dai Hongzheng3,Almannai Mohammed4,Staufner Christian5,Alfadhel Majid6,Gambello Michael J.7,Prasun Pankaj8,Raza Saleem9,Lyons Hernando J.9,Afqi Manal4,Saleh Mohammed A. M.4,Faqeih Eissa A.4,Alzaidan Hamad I.10,Alshenqiti Abduljabbar10,Flore Leigh Anne11,Hertecant Jozef1,Sacharow Stephanie12,Barbouth Deborah S.13,Murayama Kei14,Shah Amit A.15,Lin Henry C.15,Wong Lee-Jun C.3

Affiliation:

1. Division of Clinical Genetics and Metabolic Disorders; Pediatric Department; Tawam Hospital; Al-Ain United Arab Emirates

2. Medical Scientist Training Program and Program in Developmental Biology; Baylor College of Medicine; Houston Texas

3. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

4. Section of Medical Genetics; King Fahad Medical City; Children's Specialist Hospital; Riyadh Saudi Arabia

5. Division of Neuropediatrics and Metabolic Medicine; Department of General Pediatrics; University Hospital Heidelberg; Heidelberg Germany

6. King Abdullah International Medical Research Centre; King Saud bin Abdulaziz University for Health Sciences; Division of Genetics; Department of Pediatrics; King Abdulaziz Medical City; Ministry of National Guard-Health Affairs (NGHA); Riyadh Saudi Arabia

7. Division of Medical Genetics; Department of Human Genetics; Emory University School of Medicine; Atlanta Georgia

8. Department of Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York New York

9. Department of Pediatrics; St John Hospital and Medical Center and Wayne State University School of Medicine; Detroit Michigan

10. Department of Medical Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

11. Division of Genetic; Genomic; and Metabolic Disorders; Children's Hospital of Michigan and Wayne State University; Detroit Michigan

12. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

13. Division of Clinical and Translational Genetics; Dr. John T. Macdonald Foundation Department of Human Genetics; University of Miami, Miller School of Medicine; Miami Florida

14. Department of Metabolism; Chiba Children's Hospital; Chiba Japan

15. Division of Gastroenterology; Hepatology; and Nutrition; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure;Al-Hussaini;Journal of Pediatrics,2014

2. The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics;Al-Jasmi;Molecular Genetics and Metabolism,2011

3. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene;AlSaman;Saudi Journal of Gastroenterology Association,2012

4. Mitochondrial DNA depletion syndrome causing liver failure;Bijarnia-Mahay;Indian Pediatrics,2014

5. Navajo neurohepatopathy: A case report and literature review emphasizing clinicopathologic diagnosis;Bitting;Acta gastro-enterologica Belgica Société royale belge de gastro-entérologie,2016

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