Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

Fertility and Sterility

Volumn 95, Issue 8, 2011, Pages 2703-2706

  Sandbacka, Maria ^a,b   Bruce, Sara ^c   Halttunen, Mervi ^d   Puhakka, Minna ^b   Lahermo, Päivi ^a   Hannula Jouppi, Katariina ^a,b   Lipsanen Nyman, Marita ^a   Kere, Juha ^a,b,c   Aittomäki, Kristiina ^a,d   Laivuori, Hannele ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c KAROLINSKA INSTITUTE   (Sweden)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

DNA methylation; H19; MRKH syndrome; M llerian aplasia; MURCS

Indexed keywords

GENOMIC DNA; RNA H19; SOMATOMEDIN B;

APLASIA; ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; CPG ISLAND; DNA METHYLATION; EXON; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INTRON; MAJOR CLINICAL STUDY; MULLERIAN APLASIA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REGULATOR GENE; SILVER RUSSELL SYNDROME;

46, XX DISORDERS OF SEX DEVELOPMENT; ABNORMALITIES, MULTIPLE; CASE-CONTROL STUDIES; CONGENITAL ABNORMALITIES; CPG ISLANDS; DNA METHYLATION; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; HUMANS; MULLERIAN DUCTS; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA, UNTRANSLATED; UTERUS; VAGINA;

EID: 79959724602     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2011.03.019     Document Type: Article

References (31)

1. K. Aittomäki, H. Eroila, and P. Kajanoja A population-based study of the incidence of Müllerian aplasia in Finland Fertil Steril 76 2001 624 625 (Pubitemid 32776563)
2. J.E. Griffin, C. Edwards, J.D. Madden, M.J. Harrod, and J.D. Wilson Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome Ann Intern Med 85 1976 224 236
3. J.L. Simpson Genetics of the female reproductive ducts Am J Med Genet 89 1999 224 239 (Pubitemid 30180708)
4. J.C. Petrozza, M.R. Gray, A.J. Davis, and R.H. Reindollar Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies Fertil Steril 67 1997 387 389 (Pubitemid 27052201)
5. A. Biason-Lauber, D. Konrad, F. Navratil, and E.J. Schoenle A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46, XX woman N Engl J Med 351 2004 792 798 (Pubitemid 39095314)
6. A. Biason-Lauber, G. De Filippo, D. Konrad, G. Scarano, A. Nazzaro, and E.J. Schoenle WNT4 deficiency - a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report Hum Reprod 22 2007 224 229 (Pubitemid 44942690)
7. P. Philibert, A. Biason-Lauber, R. Rouzier, C. Pienkowski, F. Paris, and D. Konrad Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study J Clin Endocrinol Metab 93 2008 895 900 (Pubitemid 351398569)
8. C. Cheroki, A.C. Krepischi-Santos, C. Rosenberg, F.S. Jehee, R.C. Mingroni-Netto, and I. Pavanello Filho Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women Am J Med Genet A 140 2006 1339 1342 (Pubitemid 43835426)
9. C. Bendavid, L. Pasquier, T. Watrin, K. Morcel, J. Lucas, and I. Gicquel Phenotypic variability of a 4q34→qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother Eur J Med Genet 50 2007 66 72 (Pubitemid 46110980)
10. C. Cheroki, A.C. Krepischi-Santos, K. Szuhai, V. Brenner, C.A. Kim, and P.A. Otto Genomic imbalances associated with mullerian aplasia J Med Genet 45 2008 228 232 (Pubitemid 351518728)
11. L. Bernardini, S. Gimelli, C. Gervasini, M. Carella, A. Baban, and G. Frontino Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster- Hauser (MRKH) syndrome: two case reports Orphanet J Rare Dis 4 2009 25
12. S. Ledig, C. Schippert, R. Strick, M.W. Beckmann, P.G. Oppelt, and P. Wieacker Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome Fertil Steril 95 2011 1589 1594
13. C. Gervasini, F.R. Grati, F. Lalatta, S. Tabano, B. Gentilin, and P. Colapietro SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome Genet Med 12 2010 634 640
14. J. Bliek, P. Terhal, M.J. van den Bogaard, S. Maas, B. Hamel, and G. Salieb-Beugelaar Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype Am J Hum Genet 78 2006 604 614
15. S. Bruce, K. Hannula-Jouppi, J. Peltonen, J. Kere, and M. Lipsanen-Nyman Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies J Clin Endocrinol Metab 94 2009 579 587
16. C. Gicquel, S. Rossignol, S. Cabrol, M. Houang, V. Steunou, and V. Barbu Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome Nat Genet 37 2005 1003 1007 (Pubitemid 43086160)
17. T. Eggermann, N. Schönherr, E. Meyer, C. Obermann, M. Mavany, and K. Eggermann Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain J Med Genet 43 2006 615 616 (Pubitemid 44048770)
18. K. Delaval, A. Wagschal, and R. Feil Epigenetic deregulation of imprinting in congenital diseases of aberrant growth Bioessays 28 2006 453 459 (Pubitemid 43668060)
19. A. Gabory, H. Jammes, and L. Dandolo The H19 locus: role of an imprinted non-coding RNA in growth and development Bioessays 32 2010 473 480
20. A. Gabory, M.A. Ripoche, A. Le Digarcher, F. Watrin, A. Ziyyat, and T. Forné H19 acts as a trans regulator of the imprinted gene network controlling growth in mice Development 136 2009 3413 3421
21. J. Mineno, S. Okamoto, T. Ando, M. Sato, H. Chono, and H. Izu The expression profile of microRNAs in mouse embryos Nucleic Acids Res 34 2006 1765 1771
22. X. Cai, and B.R. Cullen The imprinted H19 noncoding RNA is a primary microRNA precursor RNA 13 2007 313 316 (Pubitemid 46327534)
23. S. Bruce, K. Hannula-Jouppi, C.M. Lindgren, M. Lipsanen-Nyman, and J. Kere Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR Clin Chem 54 2008 491 499 (Pubitemid 351348155)
24. M. Bibikova, J. Le, B. Barnes, S. Saedinia-Melnyk, L. Zhou, and R. Shen Genome-wide DNA methylation profiling using Infinium® assay Epigenomics 1 2009 177 200
25. Y. Benjamini, and Y. Hochberg Controlling for the false discovery rate: a practical and powerful approach to multiple testing J R Statist Soc B 57 1995 289 300
26. E.L. Wakeling, S.A. Amero, M. Alders, J. Bliek, E. Forsythe, and S. Kumar Epigenotype-phenotype correlations in Silver-Russell syndrome J Med Genet 47 2010 760 768
27. M.P. Steinkampf, S.P. Dharia, and R.D. Dickerson Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency Fertil Steril 80 2003 643 645 (Pubitemid 37102883)
28. U.A. Duru, and M.R. Laufer Discordance in Mayer-von Rokitansky- Küster-Hauser Syndrome noted in monozygotic twins J Pediatr Adolesc Gynecol 22 2009 e73 e75
29. M. Samn, K. Lewis, and B. Blumberg Monozygotic twins discordant for the Russell-Silver syndrome Am J Med Genet 37 1990 543 545 (Pubitemid 20380842)
30. W. Bailey, B. Popovich, and K.L. Jones Monozygotic twins discordant for the Russell-Silver syndrome Am J Med Genet 58 1995 101 105
31. R. Weksberg, C. Shuman, O. Caluseriu, A.C. Smith, Y.L. Fei, and J. Nishikawa Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome Hum Mol Genet 11 2002 1317 1325 (Pubitemid 34555529)