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Int. J. Mol. Sci. 2014, 15(3), 3834-3841; doi:10.3390/ijms15033834
Communication

Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?

1,* , 2
, 1
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 and 1
Received: 7 January 2014; in revised form: 18 February 2014 / Accepted: 20 February 2014 / Published: 3 March 2014
(This article belongs to the collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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Abstract: 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.
Keywords: complex disease; digenic heterozygosis; early onset-inflammatory bowel disease; IL10R; NOD2 complex disease; digenic heterozygosis; early onset-inflammatory bowel disease; IL10R; NOD2
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Girardelli, M.; Vuch, J.; Tommasini, A.; Crovella, S.; Bianco, A.M. Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association? Int. J. Mol. Sci. 2014, 15, 3834-3841.

AMA Style

Girardelli M, Vuch J, Tommasini A, Crovella S, Bianco AM. Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association? International Journal of Molecular Sciences. 2014; 15(3):3834-3841.

Chicago/Turabian Style

Girardelli, Martina; Vuch, Josef; Tommasini, Alberto; Crovella, Sergio; Bianco, Anna M. 2014. "Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?" Int. J. Mol. Sci. 15, no. 3: 3834-3841.



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