Oxford University Press, Inflammatory Bowel Diseases, 10(22), p. 2317-2327, 2016
DOI: 10.1097/mib.0000000000000890
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Background: Most cases of inflammatory bowel disease (IBD) are caused by complex host–environment interaction. There are a number of conditions associated with a single-gene mutation, most cases are very early onset (aged C), COL7A1(c.6501+1G>C), LIG4(p.R814X), and XIAP(p.T470S) were known causative mutations, and FERMT1(p.R271Q) and SKIV2L(c.354+5G>A) were novel. In the 3 patients with XIAP, SKIV2L, and FERMT1 variants, individuals' disease features resembled the monogenic phenotype. This was despite apparent heterozygous carriage of pathogenic variation for the latter 2 genes. The XIAP variant was observed in a hemizygous male. Conclusions: Whole-exome sequencing allows for identification of known and de novo potentially causative mutations in genes associated with monogenic IBD. Although these are rare conditions, it is vital to identify causative mutations early to improve prognosis. We postulate that in a subset of IBD, heterozygous mutations (in genes believed to manifest IBD through autosomal recessive inheritance) may contribute to clinical presentation.