Ulcerative colitis with a mutation in the HMBS gene associated with acute intermittent porphyria

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Abstract
In this study, we describe a 12-year-old girl suffering from ulcerative colitis with total intestinal mucosal involvement. The aim of our study is to clarify the etiology of the disease using molecular genetics testing. Methods. Whole-genome sequencing was performed using the DNBSEQ-T7RS platform. We used the CADD, PROVEAN and other predictive programs to determine potential clinical significance of the identified variants. Results. The pathogenic missense variant c.583C>T, p.Arg195Cys in the HMBS gene, associated with acute intermittent porphyria, and a rare variant of unknown significance.c.437G>A, p.Arg146Gln in the TTC7A gene, which is associated with intestinal and immune disorders of varying severity were detected. Conclusions. An unexpected combination of ulcerative colitis with a mutation in the HMBS gene associated with an autosomal dominant acute porphyria which in rare cases is combined with inflammatory bowel diseases, has been identified.

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