Fig. 1

Identification of novel MYO5B mutation identified in children with VEO-IBD. (a) Gastroscopic and colonoscopic findings of the patient at the time of diagnosis of Crohn’s disease and after treatment; (b) Pathological findings of the patient at the time of diagnosis of Crohn’s disease, showing chronic inflammation; (c) MRE findings of the patient at the time of diagnosis of Crohn’s disease, with thickening of the intestinal wall of the left abdominal subintestinal canal and marked enhancement; (d) Pedigree chart of the patient; (e) Spatial structure changes of the patient and wild-type (WT) mutant loci; (f) Sanger sequencing results show mutations in MYO5B detected in the proband’s family; (g-i) Protein expression of MYO5B in the ileal terminus of this patient and the control child