Nature Communications (Jan 2018)
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
- Jean-Louis Guéant,
- Céline Chéry,
- Abderrahim Oussalah,
- Javad Nadaf,
- David Coelho,
- Thomas Josse,
- Justine Flayac,
- Aurélie Robert,
- Isabelle Koscinski,
- Isabelle Gastin,
- Pierre Filhine-Tresarrieu,
- Mihaela Pupavac,
- Alison Brebner,
- David Watkins,
- Tomi Pastinen,
- Alexandre Montpetit,
- Fadi Hariri,
- David Tregouët,
- Benjamin A Raby,
- Wendy K. Chung,
- Pierre-Emmanuel Morange,
- D. Sean Froese,
- Matthias R. Baumgartner,
- Jean-François Benoist,
- Can Ficicioglu,
- Virginie Marchand,
- Yuri Motorin,
- Chrystèle Bonnemains,
- François Feillet,
- Jacek Majewski,
- David S. Rosenblatt
Affiliations
- Jean-Louis Guéant
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Céline Chéry
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Abderrahim Oussalah
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Javad Nadaf
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- David Coelho
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Thomas Josse
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Justine Flayac
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Aurélie Robert
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Isabelle Koscinski
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Isabelle Gastin
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Pierre Filhine-Tresarrieu
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Mihaela Pupavac
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- Alison Brebner
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- David Watkins
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- Tomi Pastinen
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- Alexandre Montpetit
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- Fadi Hariri
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- David Tregouët
- Sorbonne Universités, UPMC University Paris 06, Institut National pour la Santé et la Recherche Médicale (INSERM), ICAN Institute for Cardiometabolism and Nutrition, Unité Mixte de Recherche en Santé (UMR_S) 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases
- Benjamin A Raby
- Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School
- Wendy K. Chung
- Departments of Pediatrics and Medicine, Columbia University
- Pierre-Emmanuel Morange
- INSERM, UMR_S1062, Nutrition Obesity and Risk of Thrombosis, Aix-Marseille University
- D. Sean Froese
- Division of Metabolism and Children’s Research Centre (CRC), University Children’s Hospital
- Matthias R. Baumgartner
- Division of Metabolism and Children’s Research Centre (CRC), University Children’s Hospital
- Jean-François Benoist
- Service de Biochimie Hormonologie, Hôpital Robert Debré
- Can Ficicioglu
- Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania
- Virginie Marchand
- Laboratoire Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), UMR7365 CNRS - Université de Lorraine and FR3209 CNRS- Université de Lorraine
- Yuri Motorin
- Laboratoire Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), UMR7365 CNRS - Université de Lorraine and FR3209 CNRS- Université de Lorraine
- Chrystèle Bonnemains
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- François Feillet
- INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy)
- Jacek Majewski
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- David S. Rosenblatt
- Department of Human Genetics, McGill University and Research Institute McGill University Health Centre
- DOI
- https://doi.org/10.1038/s41467-017-02306-5
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 12
Abstract
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at the MMACHC locus.
