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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.
PURPOSE: Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history o …
PURPOSE: Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA m …
Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature.
Kropach N, Shkalim-Zemer V, Orenstein N, Scheuerman O, Straussberg R. Kropach N, et al. Neuropediatrics. 2017 Dec;48(6):456-462. doi: 10.1055/s-0037-1601867. Epub 2017 May 8. Neuropediatrics. 2017. PMID: 28482374 Review.
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. ...Conclusion The combination of neonatal hypotonia, devel …
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings …
A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C. di Punzio G, et al. Int J Mol Sci. 2021 Nov 12;22(22):12223. doi: 10.3390/ijms222212223. Int J Mol Sci. 2021. PMID: 34830106 Free PMC article.
Mitochondrial DNA depletion syndromes (MDS) are clinically heterogenous and often severe diseases, characterized by a reduction of the number of copies of mitochondrial DNA (mtDNA) in affected tissues. ...All ten of the identified molecul …
Mitochondrial DNA depletion syndromes (MDS) are clinically heterogenous and often severe diseases, characterized …
Reflections on Charlie Gard and the Best Interests Standard From Both Sides of the Atlantic Ocean.
Ross LF. Ross LF. Pediatrics. 2020 Aug;146(Suppl 1):S60-S65. doi: 10.1542/peds.2020-0818L. Pediatrics. 2020. PMID: 32737234
Charlie Gard (August 4, 2016, to July 28, 2017) was an infant in the United Kingdom who was diagnosed with an encephalopathic form of mitochondrial DNA depletion syndrome caused by a mutation in the RRM2B gene. Charlie's parents raised 1.3 milli …
Charlie Gard (August 4, 2016, to July 28, 2017) was an infant in the United Kingdom who was diagnosed with an encephalopathic form of mit …
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. Penque BA, et al. Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12. Eur J Med Genet. 2019. PMID: 30439532
Mutations in this gene have been associated with a lethal mitochondrial depletion syndrome. Here we present the case of an infant with a novel homozygous p.Asn221Ser mutation in RRM2B who developed hypotonia, failure to thrive, sensorineural hearing lo …
Mutations in this gene have been associated with a lethal mitochondrial depletion syndrome. Here we present the case of …