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

2017Journal article Open access
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dc.contributor.authorPetersen, BS
dc.contributor.authorAugust, D
dc.contributor.authorAbt, R
dc.contributor.authorAlddafari, M
dc.contributor.authorAtarod, L
dc.contributor.authorBaris, S
dc.contributor.authorBhavsar, H
dc.contributor.authorBrinkert, F
dc.contributor.authorBuchta, M
dc.contributor.authorBulashevska, A
dc.contributor.authorChee, R
dc.contributor.authorCordeiro, AI
dc.contributor.authorDara, N
dc.contributor.authorDückers, G
dc.contributor.authorElmarsafy, A
dc.contributor.authorFrede, N
dc.contributor.authorGalal, N
dc.contributor.authorGerner, P
dc.contributor.authorGlocker, EO
dc.contributor.authorGoldacker, S
dc.contributor.authorHammermann, J
dc.contributor.authorHasselblatt, P
dc.contributor.authorHavlicekova, Z
dc.contributor.authorHübscher, K
dc.contributor.authorJesenak, M
dc.contributor.authorKaraca, NE
dc.contributor.authorKarakoc-Aydiner, E
dc.contributor.authorKharaghani, MM
dc.contributor.authorKilic, SS
dc.contributor.authorKiykim, A
dc.contributor.authorKlein, C
dc.contributor.authorKlemann, C
dc.contributor.authorKobbe, R
dc.contributor.authorKotlarz, D
dc.contributor.authorLaass, MW
dc.contributor.authorLeahy, TR
dc.contributor.authorMesdaghi, M
dc.contributor.authorMitton, S
dc.contributor.authorFarela Neves, J
dc.contributor.authorÖztürk, B
dc.contributor.authorPereira, LF
dc.contributor.authorRohr, J
dc.contributor.authorRestrepo, JLR
dc.contributor.authorRuzaike, G
dc.contributor.authorSaleh, N
dc.contributor.authorSeneviratne, S
dc.contributor.authorSenol, E
dc.contributor.authorSpeckmann, C
dc.contributor.authorTegtmeyer, D
dc.contributor.authorThankam, P
dc.contributor.authorvan der Werff ten Bosch, J
dc.contributor.authorvon Bernuth, H
dc.contributor.authorZeissig, S
dc.contributor.authorZeissig, Y
dc.contributor.authorFranke, A
dc.contributor.authorGrimbacher, B
dc.date.accessioned2023-11-03T10:50:09Z
dc.date.available2023-11-03T10:50:09Z
dc.date.issued2017
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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInflamm Bowel Dis . 2017 Dec;23(12):2109-2120pt_PT
dc.identifier.doi10.1097/MIB.0000000000001235pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4726
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherOxford University Presspt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectChildpt_PT
dc.subjectChronic Diseasept_PT
dc.subjectDiarrhea / etiology*pt_PT
dc.subjectExome Sequencingpt_PT
dc.subjectGenetic Predisposition to Disease*pt_PT
dc.subjectGenome-Wide Association Studypt_PT
dc.subjectHigh-Throughput Nucleotide Sequencingpt_PT
dc.subjectInfant, Newbornpt_PT
dc.subjectInflammatory Bowel Diseases / genetics*pt_PT
dc.subjectMutationpt_PT
dc.subjectHDE PEDpt_PT
dc.titleTargeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrheapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage2120pt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPage2109pt_PT
oaire.citation.titleInflammatory Bowel Diseasespt_PT
oaire.citation.volume23pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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