Literature DB >> 31687262

Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome.

Abraham Urzua1, Sofia Burattini1, Constanza Pinochet2, Felipe Benavides1, Gabriela M Repetto1,2.   

Abstract

Beckwith-Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CDKN1C sequencing. We present a newborn with placentomegaly, hyperinsulinism and adrenal cytomegaly, but no typical external features of BWS. The patient had normal genetic studies in blood. However, adrenal and liver tissues showed hypermethylation of IC1 and hypomethylation of IC2. Microsatellite analysis confirmed mosaic paternal uniparental disomy. This study demonstrates the importance of analyzing additional tissues to reduce underdiagnosis of somatic mosaicism in BWS. © Thieme Medical Publishers.

Entities:  

Keywords:  Beckwith–Wiedemann syndrome; hyperinsulinism; mosaicism; neonatal hypoglycemia; uniparental disomy

Year:  2019        PMID： 31687262      PMCID： PMC6824882          DOI： 10.1055/s-0039-1692197

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  10 in total

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Authors:  M Schuelke
Journal:  Nat Biotechnol       Date:  2000-02       Impact factor: 54.908

2.  Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.

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Journal:  Am J Med Genet       Date:  2000-05-15

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Authors:  Sanaa Choufani; Cheryl Shuman; Rosanna Weksberg
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-08-15       Impact factor: 3.908

Review 4.  Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

Authors:  Alessandro Mussa; Stefania Di Candia; Silvia Russo; Serena Catania; Maurizio De Pellegrin; Luisa Di Luzio; Mario Ferrari; Chiara Tortora; Maria Costanza Meazzini; Roberto Brusati; Donatella Milani; Giuseppe Zampino; Rosario Montirosso; Andrea Riccio; Angelo Selicorni; Guido Cocchi; Giovanni Battista Ferrero
Journal:  Eur J Med Genet       Date:  2015-11-22       Impact factor: 2.708

5.  Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.

Authors:  Kensaku Sasaki; Hidenobu Soejima; Ken Higashimoto; Hitomi Yatsuki; Hirofumi Ohashi; Shinya Yakabe; Keiichiro Joh; Norio Niikawa; Tsunehiro Mukai
Journal:  Eur J Hum Genet       Date:  2007-08-15       Impact factor: 4.246

6.  Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.

Authors:  Alessandro Mussa; Cristina Molinatto; Giuseppina Baldassarre; Evelise Riberi; Silvia Russo; Lidia Larizza; Andrea Riccio; Giovanni Battista Ferrero
Journal:  J Pediatr       Date:  2016-06-29       Impact factor: 4.406

7.  Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.

Authors:  Mihaela Lukova; Albena Todorova; Tihomir Todorov; Vanyo Mitev
Journal:  Mol Biol Rep       Date:  2012-10-20       Impact factor: 2.316

Review 8.  Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Authors:  Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher
Journal:  Nat Rev Endocrinol       Date:  2018-01-29       Impact factor: 43.330

9.  A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Authors:  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
Journal:  Clin Epigenetics       Date:  2016-03-01       Impact factor: 6.551

10.  Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.

Authors:  Alessandro Mussa; Valentina Pia Ciuffreda; Pina Sauro; Veronica Pagliardini; Severo Pagliardini; Diana Carli; Jennifer M Kalish; Franca Fagioli; Enza Pavanello; Giovanni Battista Ferrero
Journal:  Cancers (Basel)       Date:  2019-01-14       Impact factor: 6.639
  10 in total
  2 in total

1.  Phenotypes and epigenetic errors in patients with Beckwith-Wiedemann syndrome in China.

Authors:  Miaoying Zhang; Chengjun Sun; Renchao Liu; Chenbin Dong; Ruoqian Cheng; Zhangqian Zheng; Bingbing Wu; Feihong Luo; Zhou Pei; Wei Lu
Journal:  Transl Pediatr       Date:  2020-10

2.  Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population.

Authors:  Kelly A Duffy; Kelly D Getz; Evan R Hathaway; Mallory E Byrne; Suzanne P MacFarland; Jennifer M Kalish
Journal:  Genes (Basel)       Date:  2021-11-21       Impact factor: 4.096
  2 in total

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