Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

  • Ko, Duck Sung (Laboratory of Reproductive Medicine, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Sun-Hee (Laboratory of Reproductive Medicine, Cheil General Hospital and Women's Healthcare Center) ;
  • Park, Chan Woo (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center) ;
  • Lim, Chun Kyu (Laboratory of Reproductive Medicine, Cheil General Hospital and Women's Healthcare Center)
  • Received : 2019.02.27
  • Accepted : 2019.10.10
  • Published : 2019.12.31
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Abstract

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

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References

  1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 3421-52.
  2. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol 2005;32:270-2. https://doi.org/10.1016/j.pediatrneurol.2004.10.009
  3. Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, et al. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: genotype and phenotype analysis. Am J Med Genet A 2010;152:3129-32.
  4. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28:1011-7. https://doi.org/10.1007/s10545-005-0112-z
  5. Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, et al. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. Clin Genet 2012;81:185-90. https://doi.org/10.1111/j.1399-0004.2011.01641.x
  6. Cho SY, Sohn YB, Jin DK. An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network. Intractable Rare Dis Res 2014;3:79-86. https://doi.org/10.5582/irdr.2014.01013
  7. Preimplantation Genetic Diagnosis International Society (PGDIS). Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online 2008;16:134-47. https://doi.org/10.1016/S1472-6483(10)60567-6
  8. Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 2011;26:33-40. https://doi.org/10.1093/humrep/deq231
  9. Altarescu G, Renbaum P, Eldar-Geva T, Brooks B, Varshaver I, Avitzour M, et al. Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Prenat Diagn 2011;31:853-60. https://doi.org/10.1002/pd.2786
  10. Altarescu G, Beeri R, Eiges R, Epsztejn-Litman S, Eldar-Geva T, Elstein D, et al. Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int 2012;2012:797342. https://doi.org/10.1155/2012/797342
  11. Cimadomo D, Capalbo A, Ubaldi FM, Scarica C, Palagiano A, Canipari R, et al. The impact of biopsy on human embryo developmental potential during preimplantation genetic diagnosis. Biomed Res Int 2016;2016:7193075.
  12. De Rycke M, Goossens V, Kokkali G, Meijer-Hoogeveen M, Coonen E, Moutou C. ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Hum Reprod 2017;32:1974-94. https://doi.org/10.1093/humrep/dex265