PT - JOURNAL ARTICLE AU - KATSUHIRO MASAGO AU - SHIRO FUJITA TI - Novel NR4A1 Arg293Ser Mutation in Patients With Familial Crohn’s Disease AID - 10.21873/invivo.12483 DP - 2021 Jul 01 TA - In Vivo PG - 2135--2140 VI - 35 IP - 4 4099 - http://iv.iiarjournals.org/content/35/4/2135.short 4100 - http://iv.iiarjournals.org/content/35/4/2135.full SO - In Vivo2021 Jul 01; 35 AB - Background/Aim: The underlying etiology of Crohn’s disease remains unknown. The aim of this study was to identify genomic alterations associated with the development of Crohn’s disease in one Japanese family with a family history of Crohn’s disease. Materials and Methods: We performed whole-exome sequence and pedigree analysis of a Japanese family in which both sisters developed Crohn’s disease. Whole-exome sequencing was performed using the Ion Torrent Proton™ system. Data from the Proton runs were initially processed using the Ion Torrent platform-specific pipeline software Ion Reporter. An autosomal dominant mode of inheritance was assumed, and stringent selection criteria were applied. Results: A substitution in the NR4A1 gene at codon 293 resulting in an amino acid change from arginine to serine was identified only in the affected sisters. Conclusion: The impaired DNA-binding capacity of the NR4A1 protein due to an NR4A1 germline mutation may be a possible cause of Crohn’s disease.