Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: Causal or chance association?

Martina Girardelli, Josef Vuch, Alberto Tommasini, Sergio Crovella, Anna Monica Bianco

Research output: Contribution to journalArticlepeer-review


Deregulated immune response to gut microflora in genetically predisposed individuals is typical for inflammatory bowel diseases. It is reasonable to assume that genetic association with the disease will be more pronounced in subjects with early onset than adult onset. The nucleotide-binding oligomerization domain containing-2 gene, commonly involved in multifactorial risk of Crohn's disease, and interleukin 10 receptor genes, associated with rare forms of early onset inflammatory bowel diseases, were sequenced in an early onset patient. We identified a novel variant in the NOD2 gene (c.2857A > G p.K953E) and two already described missense variants in the IL10RA gene (S159G and G351R). The new NOD2 missense variant was examined in silico with two online bioinformatics tools to predict the potentially deleterious effects of the mutation. Although cumulative effect of these variations in the early onset of the disease can be only hypothesized, we demonstrated that family information and in silico studies can be used to predict association with the disease.

Original languageEnglish
Pages (from-to)3834-3841
Number of pages8
JournalInternational Journal of Molecular Sciences
Issue number3
Publication statusPublished - Mar 3 2014


  • Complex disease
  • Digenic heterozygosis
  • Early onset-inflammatory bowel disease
  • IL10R
  • NOD2

ASJC Scopus subject areas

  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Spectroscopy
  • Inorganic Chemistry
  • Catalysis
  • Molecular Biology
  • Computer Science Applications
  • Medicine(all)


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