Fertility and Sterility
Volume 93, Issue 3 , Pages 1006.e3-1006.e6 , February 2010

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome

  • Frederico José Silva Corrêa, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Catholic University of Brasilia, Brasília Federal District, Brazil
    • Corresponding Author InformationReprint requests: Frederico José Silva Corrêa, M.D., SHIS QI 15, conjunto 4, casa 9, Lago Sul, Brasília, DF 71.635-240, Brazil (FAX: 55-61-33526822).
    • ,
  • Adriano Bueno Tavares, Ph.D.

      Affiliations

    • Department of Postgraduate Genomic Science and Biotechnology, Catholic University of Brasília, Brasília Federal District, Brazil
    • ,
  • Rinaldo Wellerson Pereira, Ph.D.

      Affiliations

    • Department of Postgraduate Genomic Science and Biotechnology, Catholic University of Brasília, Brasília Federal District, Brazil
    • ,
  • Mauricio Simões Abrão, Ph.D.

      Affiliations

    • Department of Gynecology, São Paulo University, São Paulo, São Paulo, Brazil

Received 31 July 2009 ,Revised 9 August 2009 ,Accepted 10 August 2009.

References 

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  2. Anasti JN. Premature ovarian failure: an update. Fertil Steril. 1998;70:1–15
  3. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986;67:604–606
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  5. Tibiletti MG, Testa G, Vegetti W, Alagna F, Taborelli M, Dalpra L, et al. The idiopathic forms of premature menopause and early menopause show the same genetic pattern. Hum Reprod. 1999;14:2731–2734
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  9. Nelson LM, Anasti JN, Flack MR. Premature ovarian failure. In:  Adashi Ey,  Rock JA,  Rosenwaks Z editor. Reproductive endocrinology, surgery, and technology. 1st ed. New York: Lippincott-Raven; 1995;p. 1393–1410
  10. Aittomaki K, Lucena JLD, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995;82:959–968
  11. Aittomaki K, Herva R, Stenman UH, Juntunen K, Ylostalo P, Hovatta O, et al. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab. 1996;81:3722–3726
  12. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159–166
  13. Gromoll J, Simoni M, Nordhoff V, Behre HM, De Geyter C, Nieschlag E. Functional and clinical consequences of mutations in the FSH receptor. Mol Cell Endocrinol. 1996;125:177–182
  14. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. 1981;304:994–998
  15. Kok HS, van Asselt KM, van der Schouw YT, Peeters PH, Wijmenga C. Genetic studies to identify genes underlying menopausal age. Hum Reprod Update. 2005;11:483–493
  16. Toledo SPA, Brunner HG, Kraaij R, Post M, Dahia PLM, Hayashida CY, et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female. J Clin Endocrinol Metab. 1996;81:3850–3854
  17. De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet. 2001;10:1591–1600
  18. Moumné L, Batista F, Benayoun BA, Nallathambi J, Fellous M, Sundaresan P, et al. The mutations and potential targets of the forkhead transcription factor FOXL2. Mol Cell Endocrinol. 2008;282:2–11
  19. Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009;30:158–169
  20. De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003;72:478–487
  21. Caburet S, Demarez A, Moumné L, Fellous M, De Baere E, Veitia RA. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J Med Genet. 2004;41:932–936

 F.J.S.C. has nothing to disclose. A.B.T. has nothing to disclose. R.W.P. has nothing to disclose. M.S.A. has nothing to disclose.

PII: S0015-0282(09)03509-2

doi: 10.1016/j.fertnstert.2009.08.034

Fertility and Sterility
Volume 93, Issue 3 , Pages 1006.e3-1006.e6 , February 2010

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