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http://hdl.handle.net/11452/32054
Başlık: | Targeted gene panel sequencing for early-onset inflammatory bowel disease and chronic diarrhea |
Yazarlar: | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Pediatrik İmmünoloji Anabilim Dalı. 0000-0001-8571-2581 Kılıç, Sara Şebnem AAH-1658-2021 34975059200 |
Anahtar kelimeler: | Gastroenterology & hepatology Early-onset IBD Infant colitis Chronic diarrhea Next-generation sequencing Genetic screening Imunodeficiency Wiskott-aldrich syndrome Dyskeratosis-congenita Human genome Mutations Variants Telomere Pathogenicity Prevalence Disorders Framework |
Yayın Tarihi: | 16-Mar-2017 |
Yayıncı: | Oxford University |
Atıf: | Petersen, B. S. vd. (2017). ''Targeted gene panel sequencing for early-onset inflammatory bowel disease and chronic diarrhea''. Inflammatory Bowel Diseases, 23(12), 2109-2120. |
Özet: | 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. |
Açıklama: | "Çalışmada 57 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır.” |
URI: | https://doi.org/10.1097/MIB.0000000000001235 https://academic.oup.com/ibdjournal/article/23/12/2109/4791702?login=true http://hdl.handle.net/11452/32054 |
ISSN: | 1078-0998 1536-4844 |
Koleksiyonlarda Görünür: | Scopus Web of Science |
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