Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17:689–701.

Article  CAS  PubMed  Google Scholar 

Koopman WJH, Willems PHGM, Smeitink JAM. Monogenic mitochondrial disorders. N Engl J Med. 2012;366:1132–41.

Article  CAS  PubMed  Google Scholar 

Nordlund P, Reichard P. Ribonucleotide reductases. Annu Rev Biochem. 2006;75:681–706.

Article  CAS  PubMed  Google Scholar 

Rahman S, Poulton J. Diagnosis of mitochondrial DNA depletion syndromes. Arch Dis Child. 2009;94:3–5.

Article  PubMed  Google Scholar 

Viscomi C, Zeviani M. MtDNA-maintenance defects: syndromes and genes. J Inherit Metab Dis. 2017;40:587–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007;39:776–80.

Article  CAS  PubMed  Google Scholar 

Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009;66:1028–32.

Article  PubMed  PubMed Central  Google Scholar 

Pitceathly RDS, Smith C, Fratter C, Alston CL, He L, Craig K, et al. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012;135:3392–403.

Article  PubMed  PubMed Central  Google Scholar 

Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, et al. Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. Genome Biol. 2011;12:R92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pitceathly RDS, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, et al. Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. J Med Genet. 2011;48:610–7.

Article  CAS  PubMed  Google Scholar 

Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, et al. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. J Med Genet. 2020;57:643–6.

Article  PubMed  Google Scholar 

Wilichowski EKG, Abicht A, Mayr H, Horvath R, Sperl W, Gärtner J. G.P.188: Autosomal recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect. Neuromuscul Disord. 2014;24:866

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, et al. Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts. FASEB J. 2019;33:7168–79.

Article  PubMed  Google Scholar 

Andreu AL, Martinez R, Marti R, García-Arumí E. Quantification of mitochondrial DNA copy number: Pre-analytical factors. Mitochondrion 2009;9:242–6.

Article  CAS  PubMed  Google Scholar 

Miles L, Miles MV, Horn PS, Degrauw TJ, Wong BL, Bove KE. Importance of muscle light microscopic mitochondrial subsarcolemmal aggregates in the diagnosis of respiratory chain deficiency. Hum Pathol. 2012;43:1249–57.

Article  CAS  PubMed  Google Scholar 

Metabolic Myopathies II. In: Muscle Biopsy [Internet]. Elsevier; 2020 [cited 2022 Jun 1]. p. 408–46. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780702074714000185

Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, et al. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021;144:1451–66.

Article  PubMed  Google Scholar 

Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, et al. RNASEH1 mutations impair mtDNA replication and cause adult-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2015;97:186–93.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pontarin G, Ferraro P, Bee L, Reichard P, Bianchi V. Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells. Proc Natl Acad Sci USA. 2012;109:13302–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, et al. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromuscul Disord. 2009;19:147–50.

Article  PubMed  Google Scholar 

Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, et al. RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology. 2011;76:2032–4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hou Y, Zhao X, Xie Z, Yu M, Lv H, Zhang W, et al. Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions. Mol Genet Genom Med. 2022;10:e1921.

CAS  Google Scholar 

Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406–11.

Article  CAS  PubMed  Google Scholar 

Hadjigeorgiou GM, Sadeh M, Musumeci O, Dabby R, De Girolami L, Naini A, et al. Molecular genetic study of myophosphorylase deficiency (McArdle’s disease) in two Yemenite-Jewish families. Neuromuscul Disord. 2002;12:824–7.

Article  PubMed  Google Scholar 

Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, et al. Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing. Mol Genet Genom Med. 2019;7:e952.

CAS  Google Scholar 

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