Fertility and Sterility
Volume 90, Issue 5 , Pages 2017.e11-2017.e13 , November 2008

Successful application of preimplantation genetic diagnosis for Leigh syndrome

  • Evrim Ünsal, Ph.D.

      Affiliations

    • Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    • Corresponding Author InformationReprint requests: Evrim Ünsal, Ph.D., Cinnah cad. 47/A Cankaya Ankara, Turkey (FAX: +90 312 442 63 87).
    • ,
  • Yasemin Aktaş, M.Sc.

      Affiliations

    • Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    • ,
  • Özge Üner, M.Sc.

      Affiliations

    • Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    • ,
  • Aysun Baltacı, M.D.

      Affiliations

    • Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    • ,
  • Sarp Özcan, M.D.

      Affiliations

    • Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    • ,
  • Feriba Turhan, M.Sc.

      Affiliations

    • Gen Art Woman Health and Reproductive Biotechnology Center, Ufuk University, Ankara, Turkey
    • ,
  • Volkan Baltaci (Prof.)

      Affiliations

    • Department of Medical Genetics, Faculty of Medicine, Ufuk University, Ankara, Turkey

Received 7 February 2008 ,Revised 9 June 2008 ,Accepted 9 July 2008.

References 

  1. Robinson BH. Human cytochrome oxidase deficiency (review). Pediatr Res. 2000;48:581–585
  2. Smeitink JA, Sengers RC, Trijbels FJ, Van Den Heuvel LP. Nuclear genes and oxidative phosphorylation disorders: a review. Eur J Pediatr. 2000;159:227–231
  3. Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neurological finding in children with mitochondrial disorders. Am J Neuroradiol. 1998;19:369–377
  4. Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, et al. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem. 2001;276:15326–15329
  5. Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J Med Genet. 2004;41:540–544
  6. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet. 1998;63:1609–1621
  7. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet. 1998;20:337–343
  8. Coenen MJ, Van Den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, et al. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem Biophys Res Commun. 1999;265:339–344
  9. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet. 2004;363:1633–1641Review
  10. Baltaci V, Satiroǧlu H, Unsal E, Uner O, Ergün MA, Batioǧlu S, et al. Preimplantation genetic diagnosis in two couples with balanced reciprocal translocations. Eur J Obstet Gynecol Reprod Biol. 2007;134:126–127
  11. Baltaci V, Satiroglu H, Kabukçu C, Unsal E, Aydinuraz B, Uner O, et al. Relationship between embryo quality and aneuploidies. Reprod Biomed Online. 2006;12:77–82
  12. Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat. 2001;17:374–381

 E.Ü. has nothing to disclose. Y.A. has nothing to disclose. Ö.Ü. has nothing to disclose. A.B. has nothing to disclose. S.Ö. has nothing to disclose. F.T. has nothing to disclose. V.B. has nothing to disclose.

PII: S0015-0282(08)01475-1

doi: 10.1016/j.fertnstert.2008.07.023

Fertility and Sterility
Volume 90, Issue 5 , Pages 2017.e11-2017.e13 , November 2008

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