Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs^∗41) by Whole-Exome Sequencing in Patients with Crohn's Disease.

ABSTRACT: NLRP12 encodes the nucleotide-binding leucine-rich repeat-containing receptor 12 protein and has been linked to familial cold autoinflammatory syndrome 2 (FCAS2). Previous studies have reported that NLRP12 protein can dampen inflammatory responses in DSS-induced mice colitis. To date, only four alterations in the NLRP12 gene have been associated with Crohn's disease (CD). Here, we reported a novel heterozygous NLRP12 frameshift mutation (c.2188dupG, p.Val730Glyfs^∗41) identified by whole-exome sequencing in the proband with CD. The Sanger sequencing confirmed that his sister and father also carried this NLRP12 mutation, which cosegregated well with the CD phenotype. In silico analysis predicted this mutation to be disease-causing. Patients heterozygous

SUBMITTER: Chen J 

PROVIDER: S-EPMC11918926 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature