Table 3:
Demographic and clinical characteristics of 10 probands with suspected MODY diagnosis. Participants in bold were found to have a pathogenic variant in the present study.
Case ID | Age at diagnosis (y) | Sex | Race & Ethnicity | Diabetes type per clinical diagnosis | Islet antibodies | Random C-peptide at diagnosis (ng/mL) | Random C-peptide post-diagnosis (ng/mL) | Previously negative MODY panel | Significant past medical history | Family History of Diabetes |
---|---|---|---|---|---|---|---|---|---|---|
1 | 13.7 | M | Hispanic | T1D | Neg x4 | 0.39 | 1.66 (1-y pd) and 0.84 (2-year pd) | Athena 5-gene panel | Mother, maternal aunt, MGM, MGF | |
2 | 12.7 | M | Hispanic | Atypical KPD | Neg x3 | 1.73 | 2.92 (3-wk pd) | BGL 25-gene panel | Mother, sister, MGM, PGM | |
3 | 12.1 | F | Asian | T1D | Neg x4 | 1.67 | Athena 5-gene panel | Pancreatic pseudocyst, necrotizing pancreatitis, hypertriglyceridemia | Mother, father, PGM, MGF | |
4 | 6.6 | F | Hispanic | Unknown | Neg x4 | 1.16 | 0.49 (3-y pd) | Athena 5-gene panel | Depression/anxiety | Mother, sister, MGM |
5 | 15.6 | F | Hispanic | Unknown | Neg x4 | 1.04 | 0.19 (9-mo pd) | Athena 5-gene panel | Depression/anxiety | Mother, father, sister, MGM, MGF, PGM |
6 | 7.4 | F | NHW | T1D | Neg x3 | 0.21 | 1.02 (15-mo pd) | Gene Dx 5-gene panel | Mother, MGGM | |
7 | 12.3 | F | NHW | T1D | Neg x3 | 2.21 | Athena 5-gene panel | Mother, father, PGF, PGGM | ||
8 | 3.7 | M | Hispanic | T1D | Neg x3 | 0.39 | 0.62 (4-y pd) | Athena 5-gene panel | MGM, MGF | |
9 | 7.7 | F | NHW | T1D | Neg x4 | 0.4 | 1.5 (3-mo pd) | Athena 10-gene panel | None | |
10 | 8.0 | M | NHW | T1D | Neg x3 | 0.67 | 0.36 (2-y pd) | Athena 5-gene panel | MGM |
Abbreviations: y, years; wk, weeks; mo, months; M, male; F, female; NHW, non-Hispanic white; T1D, type 1 diabetes; KPD, ketosis-prone diabetes; pd, post-diagnosis; Neg x4, negative for 4 islet autoantibodies including GAD-65, ICA-512, insulin and ZnT8 autoantibodies; Neg x3, negative for 3 islet autoantibodies including GAD-65, ICA-512 and insulin autoantibody; pd, post-diagnosis; BCM, Baylor Genetics Laboratory; MGM, maternal grandmother; MGF, maternal grandfather; PGM, paternal grandmother; PGF, paternal grandfather; MGGM, maternal great grandmother; PGGM, paternal great grandmother