Case Report
Copyright ©The Author(s) 2023.
World J Diabetes. Jul 15, 2023; 14(7): 1137-1145
Published online Jul 15, 2023. doi: 10.4239/wjd.v14.i7.1137
Figure 1
Figure 1 Sequencing profile of exon 5 of PAX4 in the mutation region (R105H). A: Sequencing result of the propositus; B: Sequencing result of the mother; C: Sequencing result of the daughter. The whole exome sequencing and Sanger sequencing verification showed the propositus and her mother had the heterozygous variant of PAX4, c.314G>A; p.R105H, and the daughter was normal.
Figure 2
Figure 2 Changes of blood glucose and serum insulin during the follow-up. A: Fasting blood glucose levels from onset to follow-up; B: Oral glucose tolerance test levels during follow-up; C: Oral glucose-insulin release test levels during follow-up. FBG: Fasting blood glucose; OGTT: Oral glucose tolerance test; OGIRT: Oral glucose-insulin release test.
Figure 3
Figure 3 Family pedigree of the patient. To the right of the symbol, it shows the genotype of PAX4 c.314G>A mutation. M: Mutant allele; N: Normal allele.