PMC10183721_01
(a) Proband 1's family diagram. I 3 - grandmother with T2DM diagnosed at the age of 51 years, medicated with slow-acting insulin; II 3 - mother with T2DM diagnosed at the age of 39 years, medicated with glimepiride 4 mg once a day; III 1 - MODY3 diagnosed at the age of 23 years. (b) Proband 2's family diagram. I 3 - grandmother with impaired glucose tolerance diagnosed at the age of 55 years, treated with diet and exercise; II 4 - mother with T2DM diagnosed at the age of 41 years, treated with diet and exercise; III 2 - MODY3 diagnosed at the age of 19 years.
j_med-2023-0705-fig001.jpg
PMC10183721_02_j_med-2023-0705-fig001.jpg
j_med-2023-0705_fig_001
Her mother and grandmother had abnormal blood glucose in the past (Figure 1).
The sequencing chromatogram and position of the mutation in HNF1alpha gene. (A III 1 and A II 3) Proband 1 and his mother presented the same mutation c.2T > C (p.Met1?) in the start codon in exon 1 of the HNF1alpha gene. (B III 2 and B II 4) Proband 2 and her mother presented the same frameshift mutation c.1136_1137del (p.Pro379fs) in exon 6 of the HNF1alpha gene. Arrows indicate the mutation site.
j_med-2023-0705-fig002.jpg
PMC10183721_02_j_med-2023-0705-fig002.jpg
j_med-2023-0705_fig_002
Gene sequencing indicated that the proband and her mother presented the same frameshift mutation c.1136_1137del (p.Pro379fs) in exon 6 of the HNF1alpha gene, but not her father (Figure 2).
PMC10183721_02
(a) Proband 1's family diagram. I 3 - grandmother with T2DM diagnosed at the age of 51 years, medicated with slow-acting insulin; II 3 - mother with T2DM diagnosed at the age of 39 years, medicated with glimepiride 4 mg once a day; III 1 - MODY3 diagnosed at the age of 23 years. (b) Proband 2's family diagram. I 3 - grandmother with impaired glucose tolerance diagnosed at the age of 55 years, treated with diet and exercise; II 4 - mother with T2DM diagnosed at the age of 41 years, treated with diet and exercise; III 2 - MODY3 diagnosed at the age of 19 years.
j_med-2023-0705-fig001.jpg
PMC10183721_02_j_med-2023-0705-fig001.jpg
j_med-2023-0705_fig_001
Her mother and grandmother had abnormal blood glucose in the past (Figure 1).
The sequencing chromatogram and position of the mutation in HNF1alpha gene. (A III 1 and A II 3) Proband 1 and his mother presented the same mutation c.2T > C (p.Met1?) in the start codon in exon 1 of the HNF1alpha gene. (B III 2 and B II 4) Proband 2 and her mother presented the same frameshift mutation c.1136_1137del (p.Pro379fs) in exon 6 of the HNF1alpha gene. Arrows indicate the mutation site.
j_med-2023-0705-fig002.jpg
PMC10183721_02_j_med-2023-0705-fig002.jpg
j_med-2023-0705_fig_002
Gene sequencing indicated that the proband and her mother presented the same frameshift mutation c.1136_1137del (p.Pro379fs) in exon 6 of the HNF1alpha gene, but not her father (Figure 2).