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Original Article

Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction

, , , , , , , , & show all
Pages 467-471 | Received 12 Feb 2018, Accepted 18 Apr 2018, Published online: 11 Jul 2018

References

  • Qin Y, Jiao X, Simpson JL, et al. Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update 2015;21:787–808
  • Laissue P. The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. Mol Cell Endocrinol 2018;460:170–80
  • Rossi E, Verri AP, Patricelli MG, et al. A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 2008;51:631–8
  • Sehested LT, Moller RS, Bache I, et al. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A 2010;152A:3115–19
  • Kim MK, Seok HH, Kim YS, et al. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure. Gene 2014;534:54–9
  • Mohamadhashem F, Rafati M, Hoseininasab F, et al. Primary ovarian insufficiency with t(5;13): a case report and literature review on disrupted genes. Climacteric 2017;20:498–502
  • Ghosh S, Roy S, Pal P, et al. Cytogenetic analysis of patients with primary amenorrhea in Eastern India. J Obstet Gynaecol 2018;38:270–5
  • Mayer A, Fouquet B, Pugeat M, et al. BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserve. Clin Genet 2017;92:208–12
  • Bramble MS, Goldstein EH, Lipson A, et al. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Hum Reprod 2016;31:905–14
  • Caburet S, Arboleda VA, Llano E, et al. Mutant cohesin in premature ovarian failure. N Engl J Med 2014;370:943–9
  • He WB, Banerjee S, Meng LL, et al. Whole-exome sequencing identifies a homozygous donor splice site mutation in STAG3 that causes primary ovarian insufficiency. Clin Genet 2018;93:340–4
  • Li L, Wang BB, Zhang W, et al. A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency. Hum Reprod 2017; 32:248–55
  • AlAsiri S, Basit S, Wood-Trageser MA, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest 2015;125:258–62
  • Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, et al. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med Genet 2015;52:391–9
  • Colombo R, Pontoglio A, Bini M. A STAG3 missense mutation in two sisters with primary ovarian insufficiency. Eur J Obstet Gynecol Reprod Biol 2017;216:269–71
  • Weinberg-Shukron A, Renbaum P, Kalifa R, et al. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Invest 2015;125:4295–304
  • Franca MM, Funari MFA, Nishi MY, et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clin Genet 2018;93:408–11
  • Carlosama C, Elzaiat M, Patino LC, et al. A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet 2017;26:3161–6
  • Qin Y, Guo T, Li G, et al. CSB-PGBD3 mutations cause premature ovarian failure. PLoS Genet 2015;11:e1005419
  • Guo T, Zhao S, Chen M, et al. Mutations in MSH5 in primary ovarian insufficiency. Hum Mol Genet 2017;26:1452–7
  • Lourenco D, Brauner R, Lin L, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 2009;360:1200–10
  • Pagnamenta AT, Taanman JW, Wilson CJ, et al. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod 2006;21:2467–73
  • Wang B, Li L, Zhu Y, et al. Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing. Hum Reprod 2017;32:2138–46
  • Qin Y, Choi Y, Zhao H, et al. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet 2007;81:576–81
  • Kaguni LS. DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem 2004;73:293–320
  • Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004;364:875–82
  • Bekheirnia MR, Zhang W, Eble T, et al. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene 2012;499:209–12
  • Blok MJ, van den Bosch BJ, Jongen E, et al. The unfolding clinical spectrum of POLG mutations. J Med Genet 2009;46:776–85
  • Trifunovic A, Wredenberg A, Falkenberg M, et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004;429:417–23
  • Schulte C, Synofzik M, Gasser T, et al. Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 2009;73:898–900
  • Davidzon G, Greene P, Mancuso M, et al. Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 2006;59:859–62
  • Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002;52:211–19
  • Hudson G, Schaefer AM, Taylor RW, et al. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol 2007;64:553–7
  • Mancuso M, Filosto M, Oh SJ, et al. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol 2004;61:1777–9
  • Tong ZB, Sullivan SD, Lawless LM, et al. Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency. Fertil Steril 2010;94:2932–4

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