Literature DB >> 29850152

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era.

Kálmán Benke1,2, Bence Ágg1,2,3, Janine Meienberg4, Anna M Kopps4, Nathalie Fattorini4, Roland Stengl1,2, Noémi Daradics1,2, Miklós Pólos1,2, András Bors5, Tamás Radovits1, Béla Merkely1, Julie De Backer6, Zoltán Szabolcs1,2, Gábor Mátyás4,7.   

Abstract

Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of a patient with Marfan syndrome (MFS) harboring a hitherto unreported 32-kb FBN1 deletion, we highlight the need for and the feasibility of testing for CNVs (>1 kb) in Mendelian disorders in the current next-generation sequencing (NGS) era.

Entities:  

Keywords:  Copy number variations (CNVs); FBN1 gene; Marfan syndrome (MFS); genetic testing; whole-genome sequencing (WGS)

Year:  2018        PMID： 29850152      PMCID： PMC5949468          DOI： 10.21037/jtd.2018.04.40

Source DB:  PubMed          Journal:  J Thorac Dis        ISSN： 2072-1439            Impact factor:   2.895


  16 in total

1.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Authors:  H C Dietz; G R Cutting; R E Pyeritz; C L Maslen; L Y Sakai; G M Corson; E G Puffenberger; A Hamosh; E J Nanthakumar; S M Curristin
Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

2.  The revised Ghent nosology for the Marfan syndrome.

Authors:  Bart L Loeys; Harry C Dietz; Alan C Braverman; Bert L Callewaert; Julie De Backer; Richard B Devereux; Yvonne Hilhorst-Hofstee; Guillaume Jondeau; Laurence Faivre; Dianna M Milewicz; Reed E Pyeritz; Paul D Sponseller; Paul Wordsworth; Anne M De Paepe
Journal:  J Med Genet       Date:  2010-07       Impact factor: 6.318

Review 3.  Clinical sequencing: From raw data to diagnosis with lifetime value.

Authors:  S M Caspar; N Dubacher; A M Kopps; J Meienberg; C Henggeler; G Matyas
Journal:  Clin Genet       Date:  2018-03       Impact factor: 4.438

4.  Guidelines on the management of valvular heart disease (version 2012): the Joint Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology (ESC) and the European Association for Cardio-Thoracic Surgery (EACTS).

Authors:  Alec Vahanian; Ottavio Alfieri; Felicita Andreotti; Manuel J Antunes; Gonzalo Barón-Esquivias; Helmut Baumgartner; Michael Andrew Borger; Thierry P Carrel; Michele De Bonis; Arturo Evangelista; Volkmar Falk; Bernard Lung; Patrizio Lancellotti; Luc Pierard; Susanna Price; Hans-Joachim Schäfers; Gerhard Schuler; Janina Stepinska; Karl Swedberg; Johanna Takkenberg; Ulrich Otto Von Oppell; Stephan Windecker; Jose Luis Zamorano; Marian Zembala
Journal:  Eur J Cardiothorac Surg       Date:  2012-08-25       Impact factor: 4.191

Review 5.  The role of transforming growth factor-beta in Marfan syndrome.

Authors:  Kálmán Benke; Bence Ágg; Bálint Szilveszter; Ferenc Tarr; Zsolt B Nagy; Miklós Pólos; László Daróczi; Béla Merkely; Zoltán Szabolcs
Journal:  Cardiol J       Date:  2013       Impact factor: 2.737

6.  Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Authors:  Laurence Campens; Bert Callewaert; Laura Muiño Mosquera; Marjolijn Renard; Sofie Symoens; Anne De Paepe; Paul Coucke; Julie De Backer
Journal:  Orphanet J Rare Dis       Date:  2015-02-03       Impact factor: 4.123

7.  New insights into the performance of human whole-exome capture platforms.

Authors:  Janine Meienberg; Katja Zerjavic; Irene Keller; Michal Okoniewski; Andrea Patrignani; Katja Ludin; Zhenyu Xu; Beat Steinmann; Thierry Carrel; Benno Röthlisberger; Ralph Schlapbach; Rémy Bruggmann; Gabor Matyas
Journal:  Nucleic Acids Res       Date:  2015-03-27       Impact factor: 16.971

8.  The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome.

Authors:  Kálmán Benke; Bence Ágg; Miklós Pólos; Alex Ali Sayour; Tamás Radovits; Elektra Bartha; Péter Nagy; Balázs Rákóczi; Ákos Koller; Viola Szokolai; Julianna Hedberg; Béla Merkely; Zsolt B Nagy; Zoltán Szabolcs
Journal:  BMC Psychiatry       Date:  2017-07-17       Impact factor: 3.630

9.  Possible extracardiac predictors of aortic dissection in Marfan syndrome.

Authors:  Bence Agg; Kálmán Benke; Bálint Szilveszter; Miklós Pólos; László Daróczi; Balázs Odler; Zsolt B Nagy; Ferenc Tarr; Béla Merkely; Zoltán Szabolcs
Journal:  BMC Cardiovasc Disord       Date:  2014-04-11       Impact factor: 2.298

10.  Bentall procedure: quarter century of clinical experiences of a single surgeon.

Authors:  Kálmán Benke; Bence Ágg; Lilla Szabó; Bálint Szilveszter; Balázs Odler; Miklós Pólos; Chun Cao; Pál Maurovich-Horvat; Tamás Radovits; Béla Merkely; Zoltán Szabolcs
Journal:  J Cardiothorac Surg       Date:  2016-01-22       Impact factor: 1.637
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  6 in total

Review 1.  Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.

Authors:  Zoltán Szabolcs; Kálmán Benke; Roland Stengl; Bence Ágg; Miklós Pólos; Gábor Mátyás; Gábor Szabó; Béla Merkely; Tamás Radovits
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123

2.  Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome.

Authors:  Rencong Yang; Wu Zhang; Hua Lu; Jinlong Liu; Yu Xia; Shengjie Liao; Xiaohui Li; Xiaoshen Zhang; Xiaoping Fan; Chaojie Wang
Journal:  Genet Res (Camb)       Date:  2022-04-05       Impact factor: 1.588

3.  Increased visceral arterial tortuosity in Marfan syndrome.

Authors:  Bence Ágg; Bálint Szilveszter; Noémi Daradics; Kálmán Benke; Roland Stengl; Márton Kolossváry; Miklós Pólos; Tamás Radovits; Péter Ferdinandy; Béla Merkely; Pál Maurovich-Horvat; Zoltán Szabolcs
Journal:  Orphanet J Rare Dis       Date:  2020-04-15       Impact factor: 4.123

4.  Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Authors:  Roland Stengl; András Bors; Bence Ágg; Miklós Pólos; Gabor Matyas; Mária Judit Molnár; Bálint Fekete; Dóra Csabán; Hajnalka Andrikovics; Béla Merkely; Tamás Radovits; Zoltán Szabolcs; Kálmán Benke
Journal:  Orphanet J Rare Dis       Date:  2020-10-15       Impact factor: 4.123

5.  Case Report: Morphological Characterization and Long-Term Observation of Bilateral Sequential Internal Mammary Artery Aneurysms in a Patient With Confirmed FBN1 Mutation.

Authors:  Roland Stengl; Bence Ágg; Bálint Szilveszter; Kálmán Benke; Noémi Daradics; Bernadett Ruskó; Borbála Vattay; Béla Merkely; Miklós Pólos; Zoltán Szabolcs
Journal:  Front Cardiovasc Med       Date:  2021-06-16

Review 6.  The Molecular Genetics of Marfan Syndrome.

Authors:  Qiu Du; Dingding Zhang; Yue Zhuang; Qiongrong Xia; Taishen Wen; Haiping Jia
Journal:  Int J Med Sci       Date:  2021-05-27       Impact factor: 3.738
  6 in total

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