PMC5253496_01
PMC5253496_02
PMC5253496_03
(a) Pedigree tree of the patient. (b) GCK gene analysis of the patient (grandmother). The heterozygosity of exon 6 c.590T>C (p.M197T), a novel GCK-activating mutation, was identified.
CRIE2017-4709262.001.jpg
PMC5253496_03_CRIE2017-4709262.001.jpg
fig1
The sequencing of exon 6 in her DNA revealed the same mutation as her son and grandchild, and she was diagnosed with congenital hyperinsulinemic hypoglycemia (Figure 1).