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    Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea
    (Oxford Univ Press Inc, 2017) Petersen, Britt-Sabina; August, Dietrich; Abt, Renate; Alddafari, Moudjahed; Atarod, Lida; Baris, Safa; Bhavsar, Hemant; Brinkert, Florian; Buchta, Mary; Bulashevska, Alla; Chee, Ronnie; Cordeiro, Ana I.; Dara, Naghi; Duckers, Gregor; Elmarsafy, Aisha; Frede, Natalie; Galal, Nermeen; Gerner, Patrick; Glocker, Erik-Oliver; Goldacker, Sigune; Hammermann, Jutta; Hasselblatt, Peter; Havlicekova, Zuzana; Hubscher, Katrin; Jesenak, Milos; Karaca, Neslihan E.; Karakoc-Aydiner, Elif; Kharaghani, Mahboubeh M.; Kilic, Sara S.; Kiykim, Ayca; Klein, Christoph; Klemann, Christian; Kobbe, Robin; Kotlarz, Daniel; Laass, Martin W.; Leahy, T. Ronan; Mesdaghi, Mehrnaz; Mitton, Sally; Neves, Joao F.; Ozturk, Birol; Pereira, Luis F.; Rohr, Jan; Restrepo, Jessica L. R.; Ruzaike, Gunda; Saleh, Nadia; Seneviratne, Suranjith; Senol, Ebru; Speckmann, Carsten; Tegtmeyer, Daniel; Thankam, Paul; ten Bosch, Jutte Van der Werff; von Bernuth, Horst; Zeissig, Sebastian; Zeissig, Yvonne; Franke, Andre; Grimbacher, Bodo
    Background: 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.