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Background   Patients diagnosed with ulcerative colitis (UC) associated with primary sclerosis cholangitis (PSC) and sessile serrated adenoma (SSA) are rare. The present study aimed to identify the potential causative gene mutation in a patient with UC associated with PSC and SSA.Methods   DNA was extracted from the blood sample and tissue sample of SSA, followed by the whole exome sequencing (WES) analysis. Bioinformatics analysis was utilized to predict the deleteriousness of the identified variants. Multiple sequence alignment and conserved protein domain analyses were performed using online software. Sanger sequencing was used to validate the identified variants. Expression and diagnostic analysis of identified mutated genes was performed in the GSE119600 dataset (peripheral blood samples of  PSC  and  UC ) and GSE43841 dataset (tumor samples of  SSA ).Results   In the present study, a total of 842 single nucleotide variants (SNVs) in 728 genes were identified in the blood sample. Two variants, integrin beta 4 ( ITGB4 ) (c.C2503G; p.P835A) and a mucin 3A ( MUC3A ) (c.C1019T; p.P340L), were further analyzed.  MUC3A  was associated with inflammatory bowel disease. Sanger sequence in blood revealed that the  ITGB4  mutation was fully cosegregated with the result of WES in the patient. Additionally, a variant, tumor protein p53 gene ( TP53 ) (c.86delA; p.N29Tfs  ∗  15) was identified in the tissue sample of SSA. Compared to that in normal controls,  ITGB4  was upregulated in both UC and PSC,  MUC3A  was, respectively, upregulated and downregulated in PSC and UC, and  TP53  was downregulated in SSA.  ITGB4  and  TP53  had a potential diagnostic value for UC, PSC and SSA.Conclusions   The present study demonstrated that the  ITGB4  (c.C2503G; p.P835A) and  MUC3A  (c.C1019T; p.P340L) mutations may be the potential causative variants in a patient with UC associated with PSC and SSA.  TP53  (c.86delA; p.N29Tfs  ∗  15) mutation may be associated with SSA in this patient.

Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSA