New mutation in EPCAM for congenital tufting enteropathy: A case report

Figure 1 Histology and whole-exome sequencing and analysis. A: Histopathological findings by light microscopy: Hematoxylin and eosin staining revealed enterocytes with focal resembling tufts in the patient’s jejunal biopsies (healthy mother was used as a control); B: Histopathological findings by electron microscope: Electric mirror reports microvilli sparse and vacuolar degeneration of epithelial cells; C1: Whole-exome sequencing showing a novel homozygous splice mutation (c.657+1[IVS6]G>A) in the epithelial cell adhesion molecule gene in the patient; C2: Sequence analysis results showing the loss of exon 6 through mutation.