TY - JOUR T1 - Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association? JF - Int J Mol Sci Y1 - 2014 A1 - Girardelli, Martina A1 - Vuch, Josef A1 - Tommasini, Alberto A1 - Crovella, Sergio A1 - Bianco, Anna Monica KW - Age of Onset KW - Amino Acid Sequence KW - Base Sequence KW - Child KW - Colitis, Ulcerative KW - Crohn Disease KW - DNA Mutational Analysis KW - Genetic Predisposition to Disease KW - Genotype KW - Humans KW - Interleukin-10 Receptor alpha Subunit KW - Interleukin-10 Receptor beta Subunit KW - Molecular Sequence Data KW - Mutation, Missense KW - Nod2 Signaling Adaptor Protein KW - Polymorphism, Single Nucleotide KW - Risk Factors KW - Sequence Homology, Amino Acid AB -

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.

VL - 15 IS - 3 U1 - http://www.ncbi.nlm.nih.gov/pubmed/24595243?dopt=Abstract ER -