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Epigenetics Volume 8, 2013 - Issue 10
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Research Paper

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mariarosaria Calvello Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy
,
Silvia Tabano Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy; Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, Italy
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Patrizia Colapietro Department of Health Sciences; Università degli Studi di Milano; Milano, Italy
,
Silvia Maitz Clinical Genetics; Pediatric Department; S. Gerardo Hospital; Fondazione MBBM; Università di Milano-Bicocca; Monza, Italy
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Alessandra Pansa Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, Italy
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Claudia Augello Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, Italy
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Faustina Lalatta Clinical Genetics Unit; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy
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Barbara Gentilin Clinical Genetics Unit; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy
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Filippo Spreafico Pediatric Oncology Unit; Fondazione IRCCS Istituto Nazionale dei Tumori; Milano, Italy
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Luciano Calzari Molecular Biology Laboratory; Istituto Auxologico Italiano; Milano, Italy
,
Daniela Perotti Molecular Bases of Genetic Risk and Genetic Testing Unit; Department of Preventive and Predictive Medicine; Fondazione IRCCS Istituto Nazionale dei Tumori; Milano, Italy
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Lidia Larizza Department of Health Sciences; Università degli Studi di Milano; Milano, Italy; Molecular Biology Laboratory; Istituto Auxologico Italiano; Milano, Italy
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Silvia Russo Molecular Biology Laboratory; Istituto Auxologico Italiano; Milano, Italy
,
Angelo Selicorni Clinical Genetics; Pediatric Department; S. Gerardo Hospital; Fondazione MBBM; Università di Milano-Bicocca; Monza, Italy
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Silvia M Sirchia Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy; Department of Health Sciences; Università degli Studi di Milano; Milano, Italy
&
Monica Miozzo Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy; Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, ItalyCorrespondence[email protected]
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Pages 1053-1060 | Received 12 Jun 2013, Accepted 18 Jul 2013, Published online: 05 Aug 2013

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L. Fontana, M. F. Bedeschi, S. Maitz, A. Cereda, C. Faré, S. Motta, A. Seresini, P. D’Ursi, A. Orro, V. Pecile, M. Calvello, A. Selicorni, F. Lalatta, D. Milani, S. M. Sirchia, M. Miozzo & S. Tabano. (2018) Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders. Epigenetics 13:9, pages 897-909.
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Leda Paganini, Nicole Carlessi, Laura Fontana, Rosamaria Silipigni, Silvia Motta, Stefano Fiori, Silvana Guerneri, Faustina Lalatta, Anna Cereda, Silvia Sirchia, Monica Miozzo & Silvia Tabano. (2015) Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi. Epigenetics 10:7, pages 643-649.
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Donatella Milani, Lidia Pezzani, Silvia Tabano & Monica Miozzo. (2014) Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. The Application of Clinical Genetics 7, pages 169-175.
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Hwa Young Kim, Choong Ho Shin, Young Ah Lee, Chang Ho Shin, Gu-Hwan Kim & Jung Min Ko. (2022) Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome. Annals of Laboratory Medicine 42:6, pages 668-677.
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Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai & Jie Chen. (2021) A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3. Molecular Cytogenetics 14:1.
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Kelly A. Duffy, Evan R. Hathaway, Steven D. Klein, Arupa Ganguly & Jennifer M. Kalish. (2021) Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2. Molecular Case Studies 7:6, pages a006115.
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Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Chia-Feng Yang, Meng-Che Tsai, Tzu-Hung Chu, Chih-Kuang Chuang & Shuan-Pei Lin. (2021) Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. Journal of Personalized Medicine 11:11, pages 1066.
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Chelsie Villanueva-Hayes & Steven J. Millership. (2021) Imprinted Genes Impact Upon Beta Cell Function in the Current (and Potentially Next) Generation. Frontiers in Endocrinology 12.
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Laura Fontana, Silvia Tabano, Silvia Maitz, Patrizia Colapietro, Emanuele Garzia, Alberto Giovanni Gerli, Silvia Maria Sirchia & Monica Miozzo. (2021) Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance. International Journal of Molecular Sciences 22:7, pages 3445.
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Ornella Rondinone, Alessio Murgia, Jole Costanza, Silvia Tabano, Margherita Camanni, Luigi Corsaro, Laura Fontana, Patrizia Colapietro, Luciano Calzari, Silvia Motta, Carlo Santaniello, Tatjana Radaelli, Enrico Ferrazzi, Silvano Bosari, Davide Gentilini, Silvia Sirchia & Monica Miozzo. (2021) Extensive Placental Methylation Profiling in Normal Pregnancies. International Journal of Molecular Sciences 22:4, pages 2136.
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Jack Brzezinski, Cheryl Shuman & Rosanna Weksberg. 2021. The Hereditary Basis of Childhood Cancer. The Hereditary Basis of Childhood Cancer 163 188 .
Laura Fontana, Maria F. Bedeschi, Giulia A. Cagnoli, Jole Costanza, Nicola Persico, Silvana Gangi, Matteo Porro, Paola F. Ajmone, Patrizia Colapietro, Carlo Santaniello, Milena Crippa, Silvia M. Sirchia, Monica Miozzo & Silvia Tabano. (2020) (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome. Molecular Genetics & Genomic Medicine 8:9.
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Davide Rovina, Marta La Vecchia, Alice Cortesi, Laura Fontana, Matthieu Pesant, Silvia Maitz, Silvia Tabano, Beatrice Bodega, Monica Miozzo & Silvia M. Sirchia. (2020) Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients. Scientific Reports 10:1.
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Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Orazio Palumbo, Massimo Carella, Deborah J. G. Mackay, Faisal I. Rezwan, Claudia Angelini, Flavia Cerrato, Maria Vittoria Cubellis & Andrea Riccio. (2019) The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. Clinical Epigenetics 11:1.
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Kristy Ou, Ming Yu, Nicholas G. Moss, Yue J. Wang, Amber W. Wang, Son C. Nguyen, Connie Jiang, Eseye Feleke, Vasumathi Kameswaran, Eric F. Joyce, Ali Naji, Benjamin Glaser, Dana Avrahami & Klaus H. Kaestner. (2018) Targeted demethylation at the CDKN1C/p57 locus induces human β cell replication. Journal of Clinical Investigation 129:1, pages 209-214.
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Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E.H. Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni & Joan K. Morris. (2018) Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe. European Journal of Medical Genetics 61:9, pages 499-507.
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Qin Wang, Qian Geng, Qinghua Zhou, Fuwei Luo, Peining Li & Jiansheng Xie. (2017) De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. Molecular Cytogenetics 10:1.
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Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano & Monica Miozzo. (2017) Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases. BMC Medical Genetics 18:1.
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Amr Rafat Elhamamsy. (2017) Role of DNA methylation in imprinting disorders: an updated review. Journal of Assisted Reproduction and Genetics 34:5, pages 549-562.
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Silvia Russo, Luciano Calzari, Alessandro Mussa, Ester Mainini, Matteo Cassina, Stefania Di Candia, Maurizio Clementi, Sara Guzzetti, Silvia Tabano, Monica Miozzo, Silvia Sirchia, Palma Finelli, Paolo Prontera, Silvia Maitz, Giovanni Sorge, Annalisa Calcagno, Mohamad Maghnie, Maria Teresa Divizia, Daniela Melis, Emanuela Manfredini, Giovanni Battista Ferrero, Vanna Pecile & Lidia Larizza. (2016) A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver?Russell and Beckwith?Wiedemann syndromes. Clinical Epigenetics 8:1.
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Hsiang-Yu Lin, Chih-Kuang Chuang, Ru-Yi Tu, Yi-Ya Fang, Yi-Ning Su, Chih-Ping Chen, Chia-Ying Chang, Hsi-Che Liu, Tzu-Hung Chu, Dau-Ming Niu & Shuan-Pei Lin. (2016) Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome. Molecular Genetics and Metabolism 119:1-2, pages 8-13.
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Alessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, Evelise Riberi, Silvia Russo, Lidia Larizza, Andrea Riccio & Giovanni Battista Ferrero. (2016) Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. The Journal of Pediatrics 176, pages 142-149.e1.
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A. Mussa, S. Russo, A. de Crescenzo, A. Freschi, L. Calzari, S. Maitz, M. Macchiaiolo, C. Molinatto, G. Baldassarre, M. Mariani, L. Tarani, M.F. Bedeschi, D. Milani, D. Melis, A. Bartuli, M.V. Cubellis, A. Selicorni, M.C. Silengo, L. Larizza, A. Riccio & G.B. Ferrero. (2016) Fetal growth patterns in Beckwith-Wiedemann syndrome. Clinical Genetics 90:1, pages 21-27.
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A. Mussa, S. Russo, L. Larizza, A. Riccio & G.B. Ferrero. (2016) (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. Clinical Genetics 89:4, pages 403-415.
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Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Cirillo Silengo, Lidia Larizza, Andrea Riccio & Giovanni Battista Ferrero. (2015) (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome. European Journal of Human Genetics 24:2, pages 183-190.
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Ana-Maria Florea. 2016. Epigenetic Biomarkers and Diagnostics. Epigenetic Biomarkers and Diagnostics 175 194 .
Mari-Anne ValsMaria YakorevaTiina KahrePille MeeKai MuruKairit JoostRita TeekLukas SoellnerThomas EggermannKatrin Õunap. (2015) The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome. Genetic Testing and Molecular Biomarkers 19:12, pages 684-691.
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Erik Koppes, Katherine P. Himes & J. Richard Chaillet. (2015) Partial Loss of Genomic Imprinting Reveals Important Roles for Kcnq1 and Peg10 Imprinted Domains in Placental Development. PLOS ONE 10:8, pages e0135202.
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Monica Miozzo, Valentina Vaira & Silvia Maria Sirchia. (2015) Epigenetic alterations in cancer and personalized cancer treatment. Future Oncology 11:2, pages 333-348.
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Silvia Tabano, Eleonora Bonaparte & Monica Miozzo. 2015. Pyrosequencing. Pyrosequencing 241 258 .
Thomas Mikeska & Jeffrey Craig. (2014) DNA Methylation Biomarkers: Cancer and Beyond. Genes 5:3, pages 821-864.
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