Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs41) by Whole-Exome Sequencing in Patients with Crohn’s Disease

Figure 3

Dual immunofluorescence staining for NLRP12 protein and NF-κB protein in the bowel biopsy tissues of these family members. DAPI (blue) was used as a counterstain for cell nuclei. In tissue sections from the proband and his sister and father, who carried the heterozygous p.Val730Glyfs41 frameshift mutation, the NLRP12 signal (green) was significantly weaker than that of his mother (heathy control). The NF-κB p65 signal (red) was widely and highly detected in both the nucleus and cytoplasm in the epithelial and interstitial cells of the affected patients. NF-κB p65 was detected only in the cytoplasm of the proband’s mother.