Detection of altered methylation status at 11p15.5 and 7q32 in placental mesenchymal dysplasia

Taiwanese Journal of Obstetrics and Gynecology

Volumn 53, Issue 1, 2014, Pages 68-73

  Chen, Chih Ping ^a,b,c,d   Su, Yi Ning ^e   Lin, Ming Huei ^a   Wang, Tao Yeuan ^a,f,g   Chern, Schu Rern ^a   Kuo, Yu Ling ^h   Chen, Yu Ting ^a   Wang, Wayseen ^a,i  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^f MACKAY MEDICAL COLLEGE   (Taiwan)

^g NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^h KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

Androgenetic biparental mosaicism; Methylation specific multiplex ligation dependent probe amplification; Methylation specific polymerase chain reaction; Placental mesenchymal dysplasia; Quantitative fluorescent polymerase chain reaction

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; AMNION FLUID; ARTICLE; CASE REPORT; CHROMOSOME 11P; CHROMOSOME 7Q; COMPARATIVE GENOMIC HYBRIDIZATION; DIPLOIDY; DNA METHYLATION; EPIGENETICS; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; KARYOTYPE 46,XX; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PLACENTA DISORDER; PLACENTAL MESENCHYMAL DYSPLASIA; POLYMERASE CHAIN REACTION; PREMATURE FETUS MEMBRANE RUPTURE; PREMATURE LABOR; CHROMOSOME 11; CHROMOSOME 7; ECHOGRAPHY; FETUS ECHOGRAPHY; GENETIC EPIGENESIS; GENETICS; HYDATIDIFORM MOLE; MESODERM; MOSAICISM; PATHOLOGY; PLACENTA; PREGNANCY; PROCEDURES; UTERUS CANCER;

ADULT; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 7; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; HUMANS; HYDATIDIFORM MOLE; IN SITU HYBRIDIZATION, FLUORESCENCE; MESODERM; MOSAICISM; PLACENTA; PLACENTA DISEASES; POLYMERASE CHAIN REACTION; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; UTERINE NEOPLASMS;

EID: 84899070026     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2013.10.036     Document Type: Article

References (36)

1. Moscoso G., Jauniaux E., Hustin J. Placental vascular anomaly with diffuse mesenchymal stem villous hyperplasia: a new clinico-pathological entity?. Pathol Res Pract 1991, 187:324-328.
2. Chen C.-P., Chern S.-R., Wang T.-Y., Huang Z.-D., Huang M.-C., Chuang C.-Y. Pregnancy with concomitant chorangioma and placental vascular malformation with mesenchymal hyperplasia. Hum Reprod 1997, 12:2553-2556.
3. Chen C.-P., Hsu C.-Y., Su Y.-N., Wang T.-Y., Chern S.-R., Su J.-Y., et al. Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma and intrauterine growth restriction. Taiwan J Obstet Gynecol 2013, 52:154-156.
4. Arizawa M., Nakayama M. Suspected involvement of the X chromosome in placental mesenchymal dysplasia. Congenit Anom 2002, 42:309-317.
5. Cohen M.C., Roper E.C., Sebire N.J., Stanek J., Anumba D.O.C. Placental mesenchymal dysplasia associated with fetal aneuploidy. Prenat Diagn 2005, 25:187-192.
6. Pham T., Steele J., Stayboldt C., Chan L., Benirschke K. Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise: a report of 11 new cases and a review of the literature. Am J Clin Pathol 2006, 126:67-78.
7. Kinoshita T., Fukaya S., Yasuda Y., Itoh M. Placental mesenchymal dysplasia. JObstet Gynaecol Res 2007, 33:83-86.
8. Parveen Z., Tongson-Ignacio J.E., Fraser C.R., Killeen J.L., Thompson K.S. Placental mesenchymal dysplasia. Arch Pathol Lab Med 2007, 131:131-137.
9. Starikov R., Goldman R., Dizon D.S., Kostadinov S., Carr S. Placental mesenchymal dysplasia presenting as a twin gestation with complete molar pregnancy. Obstet Gynecol 2011, 118:445-449.
10. Woo G.W., Rocha F.G., Gaspar-Oishi M., Bartholomew M.L., Thompson K.S. Placental mesenchymal dysplasia. Am J Obstet Gynecol 2011, 205:e3-e5.
11. Surti U., Hill L.M., Dunn J., Prosen T., Hoffner L. Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype. Prenat Diagn 2005, 25:1048-1056.
12. Kaiser-Rogers K.A., McFadden D.E., Livasy C.A., Dansereau J., Jiang R., Knops J.F., et al. Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia. JMed Genet 2006, 43:187-192.
13. Robinson W.P., Slee J., Smith N., Murch A., Watson S.K., Lam W.L., et al. Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5. Am J Med Genet 2007, 143A:1752-1759.
14. Robinson W.P., Lauzon J.L., Innes A.M., Lim K., Arsovska S., McFadden D.E. Origin and outcome of pregnancies affected by androgenetic/biparental chimerism. Hum Reprod 2007, 22:1114-1122.
15. Schuetzle M.N., Uphoff T.S., Hatten B.A., Dawson D.B. Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia. Prenat Diagn 2007, 27:1238-1244.
16. H'mida D., Gribaa M., Yacoubi T., Chaieb A., Adala L., Elghezal H., et al. Placentalmesenchymal dysplasia with Beckwith-Wiedemann syndrome fetus in the context of biparental and androgenic cell lines. Placenta 2008, 29:454-460.
17. KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic/chimeric conceptions. Hum Pathol 2008, 39:63-72.
18. Reed R.C., Beischel L., Schoof J., Johnson J., Raff M.L., Kapur R.P. Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia. Pediatr Dev Pathol 2008, 11:377-383.
19. Bourque D.K., Peñaherrera M.S., Yuen R.K.C., Van Allen M.I., McFadden D.E., Robinson W.P. The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders. Clin Genet 2011, 79:169-175.
20. Xanthopoulou L., Delhanty J.D.A., Mania A., Mamas T., Serhal P., Sengupta S.B., et al. The nature and origin of binucleate cells in human preimplantation embryos: relevance to placental mesenchymal dysplasia. Reprod Biomed Online 2011, 22:362-370.
21. Chen C.-P., Chern S.-R., Wang W. Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies. Hum Reprod 2000, 15:929-934.
22. Gaston V., Le Bouc Y., Soupre V., Burglen L., Donadieu J., Oro H., et al. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2001, 9:409-418.
23. Aviram R., Kidron D., Silverstein S., Lerer I., Abeliovich D., Tepper R., et al. Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. Placenta 2008, 29:646-649.
24. Makrydimas G., Sebire N.J., Thornton S.E., Zagorianakou N., Lolis D., Fisher R.A. Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism. Hum Reprod 2002, 17:2459-2463.
25. Ford J.H., Brown J.K., Lew W.Y.C., Peters G.B. Diploid complete hydatidiform mole, mosaic for normally fertilized cells and androgenetic homozygous cells. Br J Obstet Gynaecol 1986, 93:1181-1186.
26. Weaver D.T., Fisher R.A., Newlands E.S., Paradinas F.J. Amniotic tissue in complete hydatidiform moles can be androgenetic. JPathol 2000, 191:67-70.
27. McFadden D.E., Kalousek D.K. Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the haploid set. Am J Med Genet 1991, 38:535-538.
28. McFadden D.E., Langlois S. Parental and meiotic origin of triploidy in the fetal and embryonic period. Clin Genet 2000, 58:192-200.
29. Kajii T., Ohama K. Androgenetic origin of hydatidiform mole. Nature 1977, 268:633-634.
30. KIP2 (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. Hum Mol Genet 2002, 11:3267-3272.
31. Fisher R.A., Nucci M.R., Thaker H.M., Weremowicz S., Genest D.R., Castrillon D.H. Complete hydatidiform mole retaining a chromosome 11 of maternal origin: molecular genetic analysis of a case. Mod Pathol 2004, 17:1155-1160.
32. McConnell T.G., Murphy K.M., Hafez M., Vang R., Ronnett B.M. Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. Am J Surg Pathol 2009, 33:805-817.
33. Murdoch S., Djuric U., Mazhar B., Seoud M., Khan R., Kuick R., et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 2006, 38:300-302.
34. Wang C.M., Dixon P.H., Decordova S., Hodges M.D., Sebire N.J., Ozalp S., et al. Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. JMed Genet 2009, 46:569-575.
35. Parry D.A., Logan C.V., Hayward B.E., Shires M., Landolsi H., Diggle C., et al. Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. Am J Hum Genet 2011, 89:451-458.
36. Reddy R., Akoury E., Phuong Nguyen N.M., Abdul-Rahman O.A., Dery C., Gupta N., et al. Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. Eur J Hum Genet 2013, 21:957-964.