Molecular Genetics and Metabolism Reports (Sep 2022)
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
- Monica Fumagalli,
- Dario Ronchi,
- Maria Francesca Bedeschi,
- Arianna Manini,
- Gloria Cristofori,
- Fabio Mosca,
- Robertino Dilena,
- Monica Sciacco,
- Simona Zanotti,
- Daniela Piga,
- Gianluigi Ardissino,
- Fabio Triulzi,
- Stefania Corti,
- Giacomo P. Comi,
- Leonardo Salviati
Affiliations
- Monica Fumagalli
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy; University of Milan, Department of Clinical Sciences and Community Health, Milan, Italy
- Dario Ronchi
- Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- Maria Francesca Bedeschi
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOD Medical Genetics, Milan, Italy
- Arianna Manini
- Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- Gloria Cristofori
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy
- Fabio Mosca
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy; University of Milan, Department of Clinical Sciences and Community Health, Milan, Italy
- Robertino Dilena
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Neurophysiology,Milan, Italy
- Monica Sciacco
- Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy
- Simona Zanotti
- Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy
- Daniela Piga
- Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy
- Gianluigi Ardissino
- Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UO Nefrologia, Dialisi E Trapianto Pediatrico, Milan, Italy
- Fabio Triulzi
- Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Unit of Neuroradiology, Milan, Italy
- Stefania Corti
- Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy
- Giacomo P. Comi
- Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Fondazione IRCCS CCà Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy; Corresponding author at: Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.
- Leonardo Salviati
- Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padova, Italy; IRP Città della Speranza, Padova, Italy
- Journal volume & issue
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Vol. 32
p. 100887
Abstract
Mitochondrial DNA (mtDNA) depletion syndromes are disorders characterized by infantile-onset, severe progression, and the drastic loss of mtDNA content in affected tissues. In a patient who showed severe hypotonia, proximal tubulopathy and sensorineural hearing loss after birth, we observed severe mtDNA depletion and impaired respiratory chain activity in muscle due to heterozygous variants c.686G > T and c.551-2A > G in RRM2B, encoding the p53R2 subunit of the ribonucleotide reductase.
