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

Figure 1

Identification of a novel NLRP12 frameshift mutation in a Chinese family with Crohn’s disease. (a) Pedigree of the studied family. The full black symbols indicate the affected individuals with clinical manifestations. The symbol with a gray vertical line inside denotes a presymptomatic status. The arrow indicates the proband, and the asterisk denotes the individuals in which WES was performed. (b) Colonoscopy images of the proband show a large and deep ulcer covered with white exudates in the terminal ileum and the stenosed ileocecal valve. Colonoscopy images of the proband’s sister show multiple irregular active ulcers in the colon. Colonoscopy of the proband’s father also revealed multiple aphthous ulcers in the terminal ileum. (c) Magnetic resonance enterography (MRE) of the proband shows segmental stenosis of the terminal ileum with thickening of the intestinal wall. (d) Biopsies from the terminal ileum of the colon of the patients exhibit prominent infiltration of inflammatory cells (mostly eosinophils and neutrophils), accompanied by a few epithelioid granulomas and focal ganglionitis in the mucosa and submucosa (hematoxylin and eosin (H&E), ×100). (e) DNA sequence electropherograms from the proband and his sister and father confirm a heterozygous G base pair duplication at position 2188 (c.2188 dupG) in the NLRP12 gene. The red arrows show the c.2188 dupG mutation.

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