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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Detalles Bibliográficos
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
Descripción
Sumario: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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