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.
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome / M. Fumagalli, D. Ronchi, M.F. Bedeschi, A. Manini, G. Cristofori, F. Mosca, R. Dilena, M. Sciacco, S. Zanotti, D. Piga, G. Ardissino, F. Triulzi, S. Corti, G.P. Comi, L. Salviati. - In: MOLECULAR GENETICS AND METABOLISM REPORTS. - ISSN 2214-4269. - 32:(2022 Sep), pp. 100887.1-100887.4. [10.1016/j.ymgmr.2022.100887]
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
M. Fumagalli;D. RonchiSecondo
;A. Manini;F. Mosca;R. Dilena;F. Triulzi;S. Corti;G.P. ComiPenultimo
;
2022
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.
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