PMC6618295_01
Filled black symbols represent individuals with diabetes. Age of diabetes onset (a) and present age (b) are represented as a/b. MN represents PDX1 c. 463C>A heterozygous mutation and NN represents the wild-type PDX1 gene. The remaining number represents BMI. Red arrow indicates the proband.
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F1
Two sisters of the proband's grandmother were also overweight diabetes, however no details of clinical features and genetic results were available (Figure 1).
Results of Sanger sequencing of exon 2 in PDX1 of the proband. The gray arrow indicates the c. 463C>A heterozygous mutation.
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PMC6618295_01_fendo-10-00406-g0002.jpg
F2
This mutation was then verified by Sanger sequencing (Figure 2).