PMC9403267_01
ABCC8 gene c.863G>A mutated sequence in the proband. Arrows indicate the mutation site.
fped-10-914267-g0001.jpg
PMC9403267_01_fped-10-914267-g0001.jpg
F1
Sanger validation detected the c.863G>A mutation in the father (Figure 1) and c.2506C>T in the mather (Figure 2).
ABCC8 gene c.2506C>T mutated sequence in the proband. Arrows indicate the mutation site.
fped-10-914267-g0002.jpg
PMC9403267_01_fped-10-914267-g0002.jpg
F2
Sanger validation detected the c.863G>A mutation in the father (Figure 1) and c.2506C>T in the mather (Figure 2).
Lineage map. I1. Father: normal phenotype, c.863G>A. I2. Mother: normal phenotype, c.2506C>T. II1. Proband: hypoglycemia, c.863G>A and c.2506C>T. II2. Sister: normal phenotype and genotype.
fped-10-914267-g0003.jpg
PMC9403267_01_fped-10-914267-g0003.jpg
F3
The pedigree of this family is illustrated in Figure 3.