Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

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dc.contributor.authorPetersen, Britt-Sabina
dc.contributor.authorAugust, Dietrich
dc.contributor.authorAbt, Renate
dc.contributor.authorAlddafari, Moudjahed
dc.contributor.authorAtarod, Lida
dc.contributor.authorBaris, Safa
dc.contributor.authorBhavsar, Hemant
dc.contributor.authorBrinkert, Florian
dc.contributor.authorBuchta, Mary
dc.contributor.authorBulashevska, Alla
dc.contributor.authorChee, Ronnie
dc.contributor.authorCordeiro, Ana I.
dc.contributor.authorDara, Naghi
dc.contributor.authorDuckers, Gregor
dc.contributor.authorElmarsafy, Aisha
dc.contributor.authorFrede, Natalie
dc.contributor.authorGalal, Nermeen
dc.contributor.authorGerner, Patrick
dc.contributor.authorGlocker, Erik-Oliver
dc.contributor.authorGoldacker, Sigune
dc.contributor.authorHammermann, Jutta
dc.contributor.authorHasselblatt, Peter
dc.contributor.authorHavlicekova, Zuzana
dc.contributor.authorHubscher, Katrin
dc.contributor.authorJesenak, Milos
dc.contributor.authorKaraca, Neslihan E.
dc.contributor.authorKarakoc-Aydiner, Elif
dc.contributor.authorKharaghani, Mahboubeh M.
dc.contributor.authorKilic, Sara S.
dc.contributor.authorKiykim, Ayca
dc.contributor.authorKlein, Christoph
dc.contributor.authorKlemann, Christian
dc.contributor.authorKobbe, Robin
dc.contributor.authorKotlarz, Daniel
dc.contributor.authorLaass, Martin W.
dc.contributor.authorLeahy, T. Ronan
dc.contributor.authorMesdaghi, Mehrnaz
dc.contributor.authorMitton, Sally
dc.contributor.authorNeves, Joao F.
dc.contributor.authorOzturk, Birol
dc.contributor.authorPereira, Luis F.
dc.contributor.authorRohr, Jan
dc.contributor.authorRestrepo, Jessica L. R.
dc.contributor.authorRuzaike, Gunda
dc.contributor.authorSaleh, Nadia
dc.contributor.authorSeneviratne, Suranjith
dc.contributor.authorSenol, Ebru
dc.contributor.authorSpeckmann, Carsten
dc.contributor.authorTegtmeyer, Daniel
dc.contributor.authorThankam, Paul
dc.contributor.authorten Bosch, Jutte Van der Werff
dc.contributor.authorvon Bernuth, Horst
dc.contributor.authorZeissig, Sebastian
dc.contributor.authorZeissig, Yvonne
dc.contributor.authorFranke, Andre
dc.contributor.authorGrimbacher, Bodo
dc.date.accessioned2019-10-27T10:47:29Z
dc.date.available2019-10-27T10:47:29Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers.en_US
dc.description.sponsorshipBundesministerium fur Bildung und Forschung (BMBF)Federal Ministry of Education & Research (BMBF) [IFB/CCI: 01EO1303, E:med/SysInflame: 012X1306F, DZIF: 8000805-3]; German Research Council (DFG)German Research Foundation (DFG) [FR 2821/6-1]en_US
dc.description.sponsorshipThis research was funded by the Bundesministerium fur Bildung und Forschung (BMBF), grant numbers IFB/CCI: 01EO1303; E:med/SysInflame: 012X1306F, and DZIF: 8000805-3, and a grant from the German Research Council (DFG; FR 2821/6-1).en_US
dc.identifier.doi10.1097/MIB.0000000000001235en_US
dc.identifier.endpage2120en_US
dc.identifier.issn1078-0998
dc.identifier.issn1536-4844
dc.identifier.issue12en_US
dc.identifier.pmid28930861en_US
dc.identifier.startpage2109en_US
dc.identifier.urihttps://doi.org/10.1097/MIB.0000000000001235
dc.identifier.urihttps://hdl.handle.net/11454/31430
dc.identifier.volume23en_US
dc.identifier.wosWOS:000419161300007en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherOxford Univ Press Incen_US
dc.relation.ispartofInflammatory Bowel Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectearly-onset IBDen_US
dc.subjectinfant colitisen_US
dc.subjectchronic diarrheaen_US
dc.subjectnext-generation sequencingen_US
dc.subjectgenetic screeningen_US
dc.subjectimmunodeficiencyen_US
dc.titleTargeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrheaen_US
dc.typeArticleen_US

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