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Τρίτη 29 Ιουνίου 2021

Novel NR4A1 Arg293Ser Mutation in Patients With Familial Crohn's Disease

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In Vivo. 2021 Jul-Aug;35(4):2135-2140. doi: 10.21873/invivo.12483.

ABSTRACT

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.

PMID:34182489 | DOI:10.21873/invivo.12483

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