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

Petersen B., August D., Abt R., Alddafari M., Atarod L., BARIŞ S., ...More

INFLAMMATORY BOWEL DISEASES, vol.23, no.12, pp.2109-2120, 2017 (SCI-Expanded) identifier identifier identifier

  • 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.