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., ...Daha Fazla

Inflammatory bowel diseases, cilt.23, sa.12, ss.2109-2120, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 12
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1097/mib.0000000000001235
  • Dergi Adı: Inflammatory bowel diseases
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2109-2120
  • Anahtar Kelimeler: 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
  • Marmara Üniversitesi Adresli: Evet

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.