Fig. 4
From: Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
High-throughput sequencing results of WFS1 in both patients and Sanger sequencing results of WFS1 in their parents. A, B, C, D The genetic sequencing results of patient 1, patient 2, father, and mother, respectively. Patient 1 and patient 2 had all three heterozygous mutations in exon 8 of the WFS1 gene. The father and mother of the patients had heterozygous mutations (c.2171C > T (p.P724L) and c.2314C > T (p.R772C) + c.2194C > T (p.R732C), respectively. The red circle presents heterozygous mutations in the two patients. The red box presents heterozygous mutations in their parents