A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency

European Journal of Obstetrics and Gynecology and Reproductive Biology

Volumn 155, Issue 2, 2011, Pages 176-179

  Rajkiewicz, Marta ^a   Szlendak Sauer, Katarzyna ^b   Sulek, Anna ^a   Gawlik Zawislak, Sylwia ^a   Krysa, Wioletta ^a   Radowicki, Stanislaw ^b   Zaremba, Jacek ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b Princess Anna Mazowiecka Hospital   (Poland)

Author keywords

FMR1 gene; Primary ovarian insufficiency; Translocation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; POLYACRYLAMIDE GEL;

ADOLESCENT; ADULT; ARTICLE; AUTOSOME; BLOOD SAMPLING; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CYTOGENETICS; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; KARYOTYPE 46,XX; OVARY INSUFFICIENCY; POLAND; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL;

EID: 79952993020     PISSN: 03012115     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejogrb.2010.12.031     Document Type: Article

References (37)

1. C.K. Welt Primary ovarian insufficiency: a more accurate term for premature ovarian failure Clin Endocrinol (Oxf) 68 2008 499 509 (Pubitemid 351388699)
2. L. Nelson, S. Covington, and R. Rebar An update: spontaneous premature ovarian insufficiency is not an early menopause Fertil Steril 83 2005 1327 1332 (Pubitemid 40615800)
3. J. Luborsky, P. Meyer, M.F. Sowers, E.B. Gold, and N. Santoro Premature menopause in a multi-ethnic population study of the menopause transition Hum Reprod 18 2003 199 206 (Pubitemid 36138877)
4. C.B. Coulam, S.C. Adamson, and J.F. Annegers Incidence of premature ovarian failure Obstet Gynecol 67 1986 604 606 (Pubitemid 16116286)
5. D.W. Cramer, and H. Xu Predicting age at menopause Maturitas 23 1996 319 326 (Pubitemid 26000614)
6. T.K. Lo, I.F. Lo, W.K. Chan, T.M. Tong, and S.T. Lam Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause Hong Kong Med J 11 2005 243 250 (Pubitemid 41153245)
7. T. Laml, I. Schulz-Lobmeyr, A. Obruca, J.C. Huber, and B.W. Hartmann Premature ovarian failure: aetiology and prospects Gynecol Endocrinol 14 2000 292 302
8. D. Toniolo X-linked premature ovarian insufficiency: a complex disease Curr Opin Genet Dev 16 2006 293 300
9. F. Rossetti, F. Rizzolio, and T. Pramparo A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 Eur J Hum Genet 12 2004 829 834 (Pubitemid 39406067)
10. L. Persani, R. Rossetti, Ch. Cacciatore, and M. Bonomi Primary ovarian insufficiency: X chromosome defects and autoimmunity J Autoimmun 33 2009 35 41
11. A. Cronister, R. Schreiner, M. Wittenberger, K. Amiri, K. Harris, and R.J. Hagerman Heterozygous fragile X female: historical, physical, cognitive and cytogenetic features Am J Med Genet 38 1991 269 274
12. B.B. de Vries, D.J. Halley, B.A. Oostra, and M.F. Niermeijer The fragile X syndrome J Med Genet 35 1998 579 589 (Pubitemid 28302280)
13. B.A. Oostra, and R. Willemsen FMR1: a gene with three faces Biochim Biophys Acta 1790 2009 467 477
14. M.D. Wittenberger, R.J. Hagerman, and S.L. Sherman The FMR1 premutation and reproduction Fertil Steril 87 2007 456 465 (Pubitemid 46394554)
15. F.J. Song, P. Barton, V. Sleightholme, G.L. Yao, and A. Fry-Smith Screening for fragile X syndrome: a literature review and modeling study HTA 7 2003 14
16. P.J. Hagerman, C.M. Greco, and R.J. Hagerman A cerebellar tremor/ataxia syndrome among fragile X premutation carriers Cytogenet Genome Res 100 2003 206 212 (Pubitemid 37467808)
17. P.J. Hagerman The fragile X prevalence paradox J Med Genet 45 2008 498 499
18. D.J. Allingham-Hawkins, R. Babul-Hirji, and D. Chitayat Fragile X premutation is a significant risk factor of premature ovarian failure: the international collaborative POF in fragile X study - preliminary data Am J Med Genet 83 1999 322 325 (Pubitemid 29162637)
19. A.M. Vianna-Morgante, S.S. Costa, A.S. Pares, and I.T. Verreschi FRAXA premutation associated with premature ovarian failure Am J Med Genet 64 1996 373 375
20. The National Fragile X Foundation: www.fragilex.org, Updated June 2010.
21. L.M. Pastore, L.B. Karns, J.V. Pinkerton, L.M. Silverman, C.D. Williams, and T.R. Camp Acceptance of fragile X premutation genetic screening in women with ovarian dysfunction Am J Obstet Gynecol 194 2006 738 743 (Pubitemid 43333148)
22. S. Ennis, D. Ward, and A. Murray Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers Eur J Hum Genet 14 2006 253 255 (Pubitemid 43135871)
23. K. Bretherick, M.R. Fluker, and W.P. Robinson FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure Hum Genet 117 2005 376 382 (Pubitemid 41194564)
24. B. Bodega, S. Bione, and L. Dalpr Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation Hum Reprod 21 2006 952 957
25. I. Streuli, T. Fraisse, V. Ibecheole, I. Moix, M. Morris, and D. de Ziegler Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency Fertil Steril 92 2009 464 478
26. J. Rohr, E.G. Allen, and K. Charen Anti-Müllerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study Hum Reprod 23 2008 1220 1225 (Pubitemid 351757318)
27. M. Seabright A rapid banding technique for human chromosome Lancet 2 1971 971 972
28. Y.H. Fu, D.P. Kuhl, and A. Pizzuti Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox Cell 67 1991 1047 1058 (Pubitemid 121001519)
29. H. Tan, H. Li, and P. Jin RNA-mediated pathogenesis in fragile X-assocciated disorders Neurosci Lett 466 2010 103 108
30. C. Sellier, F. Rau, and Y. Liu Sam68 sequestration and partial loss of function are associated with splicing alternations in FXTAS patients EMBO J 29 2010 1248 1261
31. F. Tassone, R.J. Hagerman, W.D. Chambertain, and P.J. Hagerman Transcription of the FMR1 gene in indiviuals with fragile X syndrome Am J Med Genet 97 2000 195 203 (Pubitemid 32059207)
32. C. Ross-Inta, A. Omanska-Klusek, S. Wong, C. Barrow, D. Garcia-Arocena, and Ch. Iwahashi Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome Biochem J 429 2010 545 552
33. A. Marozzi, W. Vegetti, and E. Manfredini Association between idiopathic premature ovarian failure and fragile X premutation Hum Reprod 15 2000 197 202 (Pubitemid 30035123)
34. K. Gersak, H. Meden-Vrtovec, and B. Peterlin Fragile X premutation in women with sporadic premature ovarian failure in Slovenia Hum Reprod 18 2003 1637 1640 (Pubitemid 36958042)
35. A. Kenneson, D. Cramer, and S. Warren Fragile X premutations are not a major cause of early menopause J Hum Genet 61 1997 1362 1369 (Pubitemid 28046913)
36. A. Marozzi, L. Dalpr, E. Ginelli, M.G. Tibiletti, and P.G. Crosignani FRAXA premutations are not a cause of familial premature ovarian failure Hum Reprod 14 1999 573 575 (Pubitemid 29097424)
37. M.G. Miano, C. Laperuta, P. Chiurazzi, M. D'Urso, and M.V. Ursini Ovarian dysfunction and FMR1 alleles in a large Italian family with POI and FRAXA disorders: case report BMC Med Genet 11 8 2007 18