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

Fertility and Sterility

Volumn 93, Issue 3, 2010, Pages 1006.e3-1006.e6

  Corrêa, Frederico José Silva ^a   Tavares, Adriano Bueno ^a   Pereira, Rinaldo Wellerson ^a   Abrão, Mauricio Simões ^b  

^a UNIVERSIDADE CATÓLICA DE BRASÍLIA   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Blepharophimosis ptosis epicanthus inversus syndrome; FOXL2 gene; gene mutation; hypergonadotropic hypogonadism; premature ovarian failure

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; DISEASE ASSOCIATION; EPICANTHUS; FEMALE; FOXL2 GENE; GENE; GENE MUTATION; GYNECOLOGICAL EXAMINATION; HORMONE DETERMINATION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; PHYSICAL EXAMINATION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PTOSIS;

EID: 75749098036     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2009.08.034     Document Type: Article

References (21)

1. Kalantaridou S.N., Davis S.R., and Nelson L.M. Premature ovarian failure. Endocrinol Metab Clin North Am 27 (1998) 989-1006
2. Anasti J.N. Premature ovarian failure: an update. Fertil Steril 70 (1998) 1-15
3. Coulam C.B., Adamson S.C., and Annegers J.F. Incidence of premature ovarian failure. Obstet Gynecol 67 (1986) 604-606
4. Goswami D., and Conway G.S. Premature ovarian failure. Hum Reprod Update 11 (2005) 391-410
5. Tibiletti M.G., 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 14 (1999) 2731-2734
6. Vegetti W., Marozzi A., Manfredini E., Testa G., Alagna F., Nicolosi A., et al. Premature ovarian failure. Mol Cell Endocrinol 161 (2000) 53-57
7. Laml T., Schulz-Lobmeyr I., Obruca A., Huber J.C., and Hartmann B.W. Premature ovarian failure: etiology and prospects. Gynecol Endocrinol 14 (2000) 292-302
8. Pal L., and Santoro N. Premature ovarian failure (POF): discordance between somatic and reproductive aging. Ageing Res Rev 1 (2002) 413-423
9. Nelson L.M., Anasti J.N., and Flack M.R. Premature ovarian failure. In: Adashi E., Rock J.A., and Rosenwaks Z. (Eds). Reproductive endocrinology, surgery, and technology. 1st ed (1995), Lippincott-Raven, New York 1393-1410
10. Aittomaki K., Lucena J.L.D., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82 (1995) 959-968
11. Aittomaki K., Herva R., Stenman U.H., 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 81 (1996) 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 27 (2001) 159-166
13. Gromoll J., Simoni M., Nordhoff V., Behre H.M., De Geyter C., and Nieschlag E. Functional and clinical consequences of mutations in the FSH receptor. Mol Cell Endocrinol 125 (1996) 177-182
14. Kaufman F.R., Kogut M.D., Donnell G.N., Goebelsmann U., March C., and Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 304 (1981) 994-998
15. Kok H.S., van Asselt K.M., van der Schouw Y.T., Peeters P.H., and Wijmenga C. Genetic studies to identify genes underlying menopausal age. Hum Reprod Update 11 (2005) 483-493
16. Toledo S.P.A., Brunner H.G., Kraaij R., Post M., Dahia P.L.M., Hayashida C.Y., et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female. J Clin Endocrinol Metab 81 (1996) 3850-3854
17. De Baere E., Dixon M.J., Small K.W., Jabs E.W., Leroy B.P., Devriendt K., et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet 10 (2001) 1591-1600
18. Moumné L., Batista F., Benayoun B.A., Nallathambi J., Fellous M., Sundaresan P., and Veitia R.A. The mutations and potential targets of the forkhead transcription factor FOXL2. Mol Cell Endocrinol 282 (2008) 2-11
19. Beysen D., De Paepe A., and De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat 30 (2009) 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 72 (2003) 478-487
21. Caburet S., Demarez A., Moumné L., Fellous M., De Baere E., and Veitia R.A. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J Med Genet 41 (2004) 932-936