Corrigendum to: Diagnostic yield of next-generation sequencing in very early-onset inflammatory Bowel diseases: a multicenter study /

Fabienne Charbit-Henrion; Marianna Parlato; Sylvain Hanein; Rémi Duclaux-Loras; Jan Nowak; Bernadette Begue; Sabine Rakotobe; Julie Bruneau; Cécile Fourrage; Olivier Alibeu; Frédéric Rieux-Laucat; Eva Lévy; Marie-Claude Stolzenberg; Fabienne Mazerolles; Sylvain Latour; Christelle Lenoir; Alain Fischer; Capucine Picard; Marina Aloi; Jorge Amil Dias; Mongi Ben Hariz; Anne Bourrier; Christian Breuer; Anne Breton; Jiri Bronsky; Stephan Buderus; Mara Cananzi; Stéphanie Coopman; Clara Crémilleux; Alain Dabadie; Clémentine Dumant-Forest; Odul Egritas Gurkan; Alexandre Fabre; Aude Fischer; Marta German Diaz; Yago Gonzalez-Lama; Olivier Goulet; Graziella Guariso; Neslihan Gurcan; Matjaz Homan; Jean-Pierre Hugot; Eric Jeziorski; Evi Karanika; Alain Lachaux; Peter Lewindon; Rosa Lima; Fernando Magro; Janos Major; Georgia Malamut; Emmanuel Mas; Istvan Mattyus; Luisa M Mearin; Jan Melek; Victor Manuel Navas-Lopez; Anders Paerregaard; Cecile Pelatan; Bénédicte Pigneur; Isabel Pinto Pais; Julie Rebeuh; Claudio Romano; Nadia Siala; Caterina Strisciuglio; Michela Tempia-Caliera; Patrick Tounian; Dan Turner; Vaidotas Urbonas; Stéphanie Willot; Frank M Ruemmele; Nadine Cerf-Bensussan

doi:10.1093/ecco-jcc/jjaa164

Title	Corrigendum to: Diagnostic yield of next-generation sequencing in very early-onset inflammatory Bowel diseases: a multicenter study /
Authors	Charbit-Henrion, Fabienne ; Parlato, Marianna ; Hanein, Sylvain ; Duclaux-Loras, Rémi ; Nowak, Jan ; Begue, Bernadette ; Rakotobe, Sabine ; Bruneau, Julie ; Fourrage, Cécile ; Alibeu, Olivier ; Rieux-Laucat, Frédéric ; Lévy, Eva ; Stolzenberg, Marie-Claude ; Mazerolles, Fabienne ; Latour, Sylvain ; Lenoir, Christelle ; Fischer, Alain ; Picard, Capucine ; Aloi, Marina ; Dias, Jorge Amil ; Hariz, Mongi Ben ; Bourrier, Anne ; Breuer, Christian ; Breton, Anne ; Bronsky, Jiri ; Buderus, Stephan ; Cananzi, Mara ; Coopman, Stéphanie ; Crémilleux, Clara ; Dabadie, Alain ; Dumant-Forest, Clémentine ; Gurkan, Odul Egritas ; Fabre, Alexandre ; Fischer, Aude ; Diaz, Marta German ; Gonzalez-Lama, Yago ; Goulet, Olivier ; Guariso, Graziella ; Gurcan, Neslihan ; Homan, Matjaz ; Hugot, Jean-Pierre ; Jeziorski, Eric ; Karanika, Evi ; Lachaux, Alain ; Lewindon, Peter ; Lima, Rosa ; Magro, Fernando ; Major, Janos ; Malamut, Georgia ; Mas, Emmanuel ; Mattyus, Istvan ; Mearin, Luisa M ; Melek, Jan ; Navas-Lopez, Victor Manuel ; Paerregaard, Anders ; Pelatan, Cecile ; Pigneur, Bénédicte ; Pais, Isabel Pinto ; Rebeuh, Julie ; Romano, Claudio ; Siala, Nadia ; Strisciuglio, Caterina ; Tempia-Caliera, Michela ; Tounian, Patrick ; Turner, Dan ; Urbonas, Vaidotas ; Willot, Stéphanie ; Ruemmele, Frank M ; Cerf-Bensussan, Nadine
DOI	10.1093/ecco-jcc/jjaa164
Full Text
Is Part of	Journal of Crohn's and colitis.. Oxford : Oxford University Press. 2021, vol. 15, no. 3, p. 517-518.. ISSN 1873-9946. eISSN 1876-4479
Keywords [eng]	genetics and molecular epidemiology ; paediatrics ; VEO-IBD ; monogenic disorders ; TNGS
Abstract [eng]	Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
Published	Oxford : Oxford University Press
Type	Journal article
Language	English
Publication date	2021
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„Corrigendum to: Diagnostic yield of next-generation sequencing in very early-onset inflammatory Bowel diseases: a multicenter study /“