Literature DB >> 26732610

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

Mari-Anne Vals1, Tiina Kahre2, Pille Mee3, Kai Muru4, Eha Kallas5, Olga Žilina6, Vallo Tillmann5, Katrin Õunap2.   

Abstract

Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is an abnormal regulation of genes in chromosomal region 11p15, where 2 imprinting control regions (ICR) control fetal and postnatal growth. Also, many submicroscopic chromosomal disturbances like duplications in 11p15 have been described among SRS and BWS patients. Duplications involving both ICRs cause SRS or BWS, depending on which parent the aberration is inherited from. We describe to our knowledge the smallest familial pure 1.3-Mb duplication in chromosomal region 11p15.5p15.4 that involves both ICRs and is present in 3 generations causing an SRS or BWS phenotype.

Entities:  

Keywords:  11p15 duplication; 11p15 imprinting disorders; Beckwith-Wiedemann syndrome; Imprinting control region 1; Imprinting control region 2; Silver-Russell syndrome

Year:  2015        PMID： 26732610      PMCID： PMC4698645          DOI： 10.1159/000437061

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  22 in total

1.  A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

Authors:  Lindsay A Brown; Rosemarie Rupps; Maria S Peñaherrera; Wendy P Robinson; Millan S Patel; Patrice Eydoux; Cornelius F Boerkoel
Journal:  Am J Med Genet A       Date:  2014-03-25       Impact factor: 2.802

2.  Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Authors:  Christine Gicquel; Sylvie Rossignol; Sylvie Cabrol; Muriel Houang; Virginie Steunou; Véronique Barbu; Fabienne Danton; Nathalie Thibaud; Martine Le Merrer; Lydie Burglen; Anne-Marie Bertrand; Irène Netchine; Yves Le Bouc
Journal:  Nat Genet       Date:  2005-08-07       Impact factor: 38.330

3.  Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.

Authors:  Laura Cardarelli; Angela Sparago; Agostina De Crescenzo; Elisa Nalesso; Barbara Zavan; Maria Vittoria Cubellis; Angelo Selicorni; Paola Cavicchioli; Giovanni Battista Pozzan; Marilena Petrella; Andrea Riccio
Journal:  Pediatr Dev Pathol       Date:  2010 Jul-Aug

4.  New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Authors:  Julie Demars; Sylvie Rossignol; Irène Netchine; Kai Syin Lee; Mansur Shmela; Laurence Faivre; Jacques Weill; Sylvie Odent; Salah Azzi; Patrick Callier; Josette Lucas; Christèle Dubourg; Joris Andrieux; Yves Le Bouc; Assam El-Osta; Christine Gicquel
Journal:  Hum Mutat       Date:  2011-09-08       Impact factor: 4.878

5.  Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.

Authors:  Thomas Eggermann; Ann-Kathrin Heilsberg; Susanne Bens; Reiner Siebert; Jasmin Beygo; Karin Buiting; Matthias Begemann; Lukas Soellner
Journal:  J Mol Med (Berl)       Date:  2014-07       Impact factor: 4.599

6.  Epigenotype-phenotype correlations in Silver-Russell syndrome.

Authors:  E L Wakeling; S Abu Amero; M Alders; J Bliek; E Forsythe; S Kumar; D H Lim; F MacDonald; D J Mackay; E R Maher; G E Moore; R L Poole; S M Price; T Tangeraas; C L S Turner; M M Van Haelst; C Willoughby; I K Temple; J M Cobben
Journal:  J Med Genet       Date:  2010-08-03       Impact factor: 6.318

7.  Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.

Authors:  Sarah T South; Heidi Whitby; Teresa Maxwell; Emily Aston; Arthur R Brothman; John C Carey
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

8.  Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

Authors:  Dieter Kotzot
Journal:  Eur J Med Genet       Date:  2008-07-04       Impact factor: 2.708

9.  Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Authors:  D Bartholdi; M Krajewska-Walasek; K Ounap; H Gaspar; K H Chrzanowska; H Ilyana; H Kayserili; I W Lurie; A Schinzel; A Baumer
Journal:  J Med Genet       Date:  2008-12-09       Impact factor: 6.318

10.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Authors:  Stefano Colella; Christopher Yau; Jennifer M Taylor; Ghazala Mirza; Helen Butler; Penny Clouston; Anne S Bassett; Anneke Seller; Christopher C Holmes; Jiannis Ragoussis
Journal:  Nucleic Acids Res       Date:  2007-03-06       Impact factor: 16.971
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  6 in total

Review 1.  Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.

Authors:  Katrin Õunap
Journal:  Mol Syndromol       Date:  2016-07-06

2.  The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Authors:  Mari-Anne Vals; Maria Yakoreva; Tiina Kahre; Pille Mee; Kai Muru; Kairit Joost; Rita Teek; Lukas Soellner; Thomas Eggermann; Katrin Õunap
Journal:  Genet Test Mol Biomarkers       Date:  2015-10-27

Review 3.  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

4.  A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3.

Authors:  Huling Jiang; Zepeng Ping; Jianguo Wang; Xiaodan Liu; Yuxia Jin; Suping Li; Chiyan Zhou; Pinghua Huang; Yi Jin; Ling Ai; Jie Chen
Journal:  Mol Cytogenet       Date:  2021-03-03       Impact factor: 2.009

5.  Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.

Authors:  Giuseppa Patti; Federica Malerba; Maria Grazia Calevo; Maurizio Schiavone; Marco Scaglione; Emilio Casalini; Silvia Russo; Daniela Fava; Marta Bassi; Flavia Napoli; Anna Elsa Maria Allegri; Giuseppe D'Annunzio; Roberto Gastaldi; Mohamad Maghnie; Natascia Di Iorgi
Journal:  Front Endocrinol (Lausanne)       Date:  2022-08-24       Impact factor: 6.055

6.  De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.

Authors:  Qin Wang; Qian Geng; Qinghua Zhou; Fuwei Luo; Peining Li; Jiansheng Xie
Journal:  Mol Cytogenet       Date:  2017-12-19       Impact factor: 2.009
  6 in total

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