Figure 1.

A novel homozygous TTC7A missense mutation was identified in the patient with familial MIA. (A) Pedigree chart of the proband’s family. Consanguinity is indicated with a double horizontal line. Males are depicted as squares, females as circles, decreased individuals with a diagonal line. Abortion is depicted as a triangle with a diagonal line. Black filled symbols represent individuals who are clinically affected, while grey filled symbols indicate individuals who do not receive medical testing. The carrier is indicated by a dot in squares or circles. The proband who underwent WES is indicated by an arrow. (B) H&E staining of the patient’s ileum of the atretic areas shows mucosal erosion, epithelial depolarization, small vascular hyperplasia and dense immune-cell infiltration within the lamina propria. Glands located in the lamina propria are dilated and twisted. (C) Sanger sequencing chromatogram depicts the c. 206 T>C missense mutation of TTC7A.