Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea
INFLAMMATORY BOWEL DISEASES, vol.23, no.12, pp.2109-2120, 2017 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 23 Issue: 12
- Publication Date: 2017
- Doi Number: 10.1097/mib.0000000000001235
- Journal Name: INFLAMMATORY BOWEL DISEASES
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.2109-2120
- Keywords: early-onset IBD, infant colitis, chronic diarrhea, next-generation sequencing, genetic screening, immunodeficiency, WISKOTT-ALDRICH SYNDROME, DYSKERATOSIS-CONGENITA, HUMAN GENOME, MUTATIONS, VARIANTS, TELOMERE, PATHOGENICITY, PREVALENCE, DISORDERS, FRAMEWORK
- Bursa Uludag University Affiliated: Yes
Abstract
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.