A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome

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 m...

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Autores principales: Fumagalli, Monica, Ronchi, Dario, Bedeschi, Maria Francesca, Manini, Arianna, Cristofori, Gloria, Mosca, Fabio, Dilena, Robertino, Sciacco, Monica, Zanotti, Simona, Piga, Daniela, Ardissino, Gianluigi, Triulzi, Fabio, Corti, Stefania, Comi, Giacomo P., Salviati, Leonardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218228/
https://www.ncbi.nlm.nih.gov/pubmed/35756861
http://dx.doi.org/10.1016/j.ymgmr.2022.100887
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author Fumagalli, Monica
Ronchi, Dario
Bedeschi, Maria Francesca
Manini, Arianna
Cristofori, Gloria
Mosca, Fabio
Dilena, Robertino
Sciacco, Monica
Zanotti, Simona
Piga, Daniela
Ardissino, Gianluigi
Triulzi, Fabio
Corti, Stefania
Comi, Giacomo P.
Salviati, Leonardo
author_facet Fumagalli, Monica
Ronchi, Dario
Bedeschi, Maria Francesca
Manini, Arianna
Cristofori, Gloria
Mosca, Fabio
Dilena, Robertino
Sciacco, Monica
Zanotti, Simona
Piga, Daniela
Ardissino, Gianluigi
Triulzi, Fabio
Corti, Stefania
Comi, Giacomo P.
Salviati, Leonardo
author_sort Fumagalli, Monica
collection PubMed
description 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.
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spelling pubmed-92182282022-06-24 A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome Fumagalli, Monica Ronchi, Dario Bedeschi, Maria Francesca Manini, Arianna Cristofori, Gloria Mosca, Fabio Dilena, Robertino Sciacco, Monica Zanotti, Simona Piga, Daniela Ardissino, Gianluigi Triulzi, Fabio Corti, Stefania Comi, Giacomo P. Salviati, Leonardo Mol Genet Metab Rep Case Report 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. Elsevier 2022-06-18 /pmc/articles/PMC9218228/ /pubmed/35756861 http://dx.doi.org/10.1016/j.ymgmr.2022.100887 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Fumagalli, Monica
Ronchi, Dario
Bedeschi, Maria Francesca
Manini, Arianna
Cristofori, Gloria
Mosca, Fabio
Dilena, Robertino
Sciacco, Monica
Zanotti, Simona
Piga, Daniela
Ardissino, Gianluigi
Triulzi, Fabio
Corti, Stefania
Comi, Giacomo P.
Salviati, Leonardo
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
title A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
title_full A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
title_fullStr A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
title_full_unstemmed A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
title_short A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
title_sort novel rrm2b mutation associated with mitochondrial dna depletion syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9218228/
https://www.ncbi.nlm.nih.gov/pubmed/35756861
http://dx.doi.org/10.1016/j.ymgmr.2022.100887
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