Copy number variants on the X chromosome in women with primary ovarian insufficiency

Fertility and Sterility

Volumn 95, Issue 5, 2011, Pages

  Knauff, Erik A H ^a   Blauw, Hylke M ^b   Pearson, Peter L ^c   Kok, Klaas ^d   Wijmenga, Cisca ^d   Veldink, Jan H ^b   Van Den Berg, Leonard H ^b   Bouchard, Philippe ^e   Fauser, Bart C J M ^a   Franke, Lude ^d  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e HÔPITAL SAINT ANTOINE   (France)

Author keywords

Copy number variation; premature ovarian failure; primary ovarian insufficiency; X chromosome

Indexed keywords

FOLLITROPIN;

ADULT; AMENORRHEA; ARTICLE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; NETHERLANDS; OVARY INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME;

EID: 79952990252     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2011.01.018     Document Type: Article

References (49)

1. C.B. Coulam, S.C. Adamson, and J.F. Annegers Incidence of premature ovarian failure Obstet Gynecol 67 1986 604 606 (Pubitemid 16116286)
2. M. De Vos, P. Devroey, and B.C. Fauser Primary ovarian insufficiency Lancet 376 2010 911 921
3. E.A. Knauff, M.J. Eijkemans, C.B. Lambalk, M.J. Ten Kate-Booij, A. Hoek, and C.C. Beerendonk Anti müllerian hormone, inhibin B, and antral follicle count in young women with ovarian failure J Clin Endocrinol Metab 94 2009 786 792
4. S.J. Richardson, V. Senikas, and J.F. Nelson Follicular depletion during the menopausal transition: evidence for accelerated loss and ultimate exhaustion J Clin Endocrinol Metab 65 1987 1231 1237 (Pubitemid 18026863)
5. R.W. Rebar, and H.V. Connolly Clinical features of young women with hypergonadotropic amenorrhea Fertil Steril 53 1990 804 810 (Pubitemid 20180467)
6. H.S. Kok, K.M. van Asselt, Y.T. van der Schouw, P.H. Peeters, and C. Wijmenga Genetic studies to identify genes underlying menopausal age Hum Reprod Update 11 2005 483 493 (Pubitemid 41418803)
7. F.J. Broekmans, E.A. Knauff, E.R. te Velde, N.S. Macklon, and B.C. Fauser Female reproductive ageing: current knowledge and future trends Trends Endocrinol Metab 18 2007 58 65 (Pubitemid 46275460)
8. D. Toniolo, and F. Rizzolio X chromosome and ovarian failure Semin Reprod Med 25 2007 264 271 (Pubitemid 47047910)
9. R.P. Singh, and D.H. Carr The anatomy and histology of XO human embryos and fetuses Anat Rec 155 1966 369 383
10. M.D. Wittenberger, R.J. Hagerman, S.L. Sherman, A. McConkie-Rosell, C.K. Welt, and R.W. Rebar The FMR1 premutation and reproduction Fertil Steril 87 2007 456 465 (Pubitemid 46394554)
11. E. Therman, R. Laxova, and B. Susman The critical region on the human Xq Hum Genet 85 1990 455 461
12. D. Schlessinger, L. Herrera, L. Crisponi, S. Mumm, A. Percesepe, and M. Pellegrini Genes and translocations involved in POF Am J Med Genet 111 2002 328 333 (Pubitemid 34815460)
13. F. Rizzolio, S. Bione, C. Sala, M. Goegan, M. Gentile, and G. Gregato Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature Hum Reprod 21 2006 1477 1483 (Pubitemid 44445025)
14. A.T. Tharapel, K.P. Anderson, J.L. Simpson, P.R. Martens, R.S. Wilroy Jr., and J.C. Llerena Jr. Deletion (X)(q26.1→q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions Am J Hum Genet 52 1993 463 471 (Pubitemid 23311316)
15. A. Marozzi, E. Manfredini, M.G. Tibiletti, D. Furlan, N. Villa, and W. Vegetti Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure Hum Genet 107 2000 304 311
16. G. Fimiani, C. Laperuta, G. Falco, V. Ventruto, M. D'Urso, and M.V. Ursini Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction Hum Reprod 21 2006 529 535 (Pubitemid 43159933)
17. M.L. Madariaga, and H. Rivera Familial inv(X) (p22q22): ovarian dysgenesis in two sisters with del Xq and fertility in one male carrier Clin Genet 52 1997 180 183 (Pubitemid 27394168)
18. Z.O. Merhi, J.L. Roberts, and A.O. Awonuga A case of 46, X, der(X)t(X;X)(q22.1;p11) Xq22.1→Xqter in a 12-year-old girl with premature ovarian failure Gynecol Obstet Invest 63 2007 137 139 (Pubitemid 46514799)
19. N.S. Thomas, and S.M. Huson Atypical phenotype in a female with a large Xp deletion Am J Med Genet 104 2001 81 83 (Pubitemid 33020155)
20. B. Lakhal, R. Braham, R. Berguigua, N. Bouali, M. Zaouali, and M. Chaieb Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients Clin Genet 78 2010 181 185
21. K.M. van Asselt, H.S. Kok, H. Putter, C. Wijmenga, P.H. Peeters, and Y.T. van der Schouw Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age Am J Hum Genet 74 2004 444 453 (Pubitemid 38325915)
22. A. Lacombe, H. Lee, L. Zahed, M. Choucair, J.-M. Muller, and S.F. Nelson Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure Am J Hum Genet 79 2006 113 119 (Pubitemid 43927381)
23. T.A. Manolio, L.D. Brooks, and F.S. Collins A HapMap harvest of insights into the genetics of common disease J Clin Invest 118 2008 1590 1605 (Pubitemid 351632361)
24. E.A. Knauff, L. Franke, M.A. van Es, L.H. van den Berg, Y.T. van der Schouw, and J.S. Laven Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene Hum Reprod 24 2009 2372 2378
25. S.A. McCarroll, F.G. Kuruvilla, J.M. Korn, S. Cawley, J. Nemesh, and A. Wysoker Integrated detection and population-genetic analysis of SNPs and copy number variation Nat Genet 40 2008 1166 1174
26. L.V. Wain, J.A. Armour, and M.D. Tobin Genomic copy number variation, human health, and disease Lancet 374 2009 340 350
27. M.M. Carrasquillo, F. Zou, V.S. Pankratz, S.L. Wilcox, L. Ma, and L.P. Walker Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease Nat Genet 41 2009 192 198
28. K. Yoshida, and S. Sugano Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3 Genomics 62 1999 540 543 (Pubitemid 30075188)
29. M. Aarabi, Z. Ousati-Ashtiani, A. Nazarian, M.H. Modarressi, and M. Heidari Association of TGIFLX/Y mRNA expression with azoospermia in infertile men Mol Reprod Dev 75 2008 1761 1766
30. J. Sebat, B. Lakshmi, D. Malhotra, J. Troge, C. Lese-Martin, and T. Walsh Strong association of de novo copy number mutations with autism Science 2007 1138659
31. International Schizophrenia Consortium Rare chromosomal deletions and duplications increase risk of schizophrenia Nature 455 2008 237 241
32. S.A. McCarroll, A. Huett, P. Kuballa, S.D. Chilewski, A. Landry, and P. Goyette Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease Nat Genet 40 2008 1107 1112
33. E.J. Hollox, U. Huffmeier, P.L. Zeeuwen, R. Palla, J. Lascorz, and D. Rodijk-Olthuis Psoriasis is associated with increased beta-defensin genomic copy number Nat Genet 40 2008 23 25
34. H.M. Blauw, A. Al-Chalabi, P.M. Andersen, P.W. van Vught, F.P. Diekstra, and M.A. van Es A large genome scan for rare CNVs in amyotrophic lateral sclerosis Hum Mol Genet 19 2010 4091 4099
35. J. Chow, and E. Heard X inactivation and the complexities of silencing a sex chromosome Curr Opin Cell Biol 21 2009 359 366
36. D. Pu, J. Wu, and J. Liu Skewed X chromosome inactivation may be not associated with premature ovarian failure Gynecol Endocrinol 26 2010 423 428
37. A. Aboura, C. Dupas, G. Tachdjian, M.F. Portnoi, N. Bourcigaux, and D. Dewailly Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure J Clin Endocrinol Metab 94 2009 4540 4546
38. C.R. Quilter, A.C. Karcanias, M.R. Bagga, S. Duncan, A. Murray, and G.S. Conway Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF) Hum Reprod 25 2010 2139 2150
39. C.M. Krauss, R.N. Turksoy, L. Atkins, C. McLaughlin, L.G. Brown, and D.C. Page Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome N Engl J Med 317 1987 125 131 (Pubitemid 17092148)
40. G. Tachdjian, A. Aboura, M.F. Portnoï, M. Pasquier, N. Bourcigaux, and T. Simon Cryptic Xp duplication including the SHOX gene in a woman with 46, X, del(X)(q21.31) and premature ovarian failure Hum Reprod 23 2008 222 226 (Pubitemid 351767328)
41. F. Rossetti, F. Rizzolio, T. Pramparo, C. Sala, S. Bione, and F. Bernardi A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 Eur J Hum Genet 12 2004 829 834 (Pubitemid 39406067)
42. R.M. Davison, C.R. Quilter, J. Webb, A. Murray, A.M. Fisher, and A. Valentine A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure Hum Reprod 13 1998 3039 3041 (Pubitemid 28521845)
43. B. Ishizuka, Y. Kudo, A. Amemiya, and T. Ogata Ovulation induction in a woman with premature ovarian failure resulting from a partial deletion of the X chromosome long arm, 46,X,del(X)(q22) Fertil Steril 68 1997 931 934 (Pubitemid 27506113)
44. A. Bates, and P.J. Howard Distal long arm deletions of the X chromosome and ovarian failure J Med Genet 27 1990 722 723
45. J. van Disseldorp, M.J. Faddy, A.P. Themmen, F.H. de Jong, P.H. Peeters, Y.T. van der Schouw, and F.J. Broekmans Relationship of serum antimüllerian hormone concentration to age at menopause J Clin Endocrinol Metab 93 2008 2129 2134 (Pubitemid 351831526)
46. M.A. van Es, J.H. Veldink, C.G. Saris, H.M. Blauw, P.W. van Vught, and A. Birve Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis Nat Genet 41 2009 1083 1087
47. B. Lakhal, R. Braham, R. Berguigua, N. Bouali, M. Zaouali, and M. Chaieb Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients Clin Genet 78 2010 181 185
48. K. Wang, M. Li, D. Hadley, R. Liu, J. Glessner, and S.F. Grant PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data Genome Res 17 2007 1665 1674 (Pubitemid 350074862)
49. J.C. Marioni, N.P. Thorne, A. Valsesia, T. Fitzgerald, R. Redon, and H. Fiegler Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization Genome Biol 8 2007 R228