Table 1.
Clinical and genetic characteristics of examined members from the family with the SLC19A2 heterozygous mutation
| ID | Mutation | Sex | Age (years) | Age at diagnosis (years) | BMI (kg/m2) | DM status | Current treatment | FPG (mg/dL) | PG 2 h after OGTT (mg/dL) | HbA1c |
Fasting insulin (μIU/mL) | Insulin 2 h after OGTT (μIU/mL) | Fasting C-peptide (ng/mL) | TRMA clinical sign | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (%) | (mmol/mol) | ||||||||||||||
| I-1 | Yes | M | 66 | 35 | 25.41 | DM | Insulin | NA | NA | 6.6 | 49 | NA | NA | 0.24 | — |
| I-2 | No | F | 62 | 62 | 26.88 | PD | None | 97 | 161 | 6.2 | 44 | 14 | 141.6 | NA | — |
| II-1 | Yes | F | 38 | 28 | 24.83 | DM | OHA | NA | NA | 8.5 | 69 | 12.1 | NA | NA | Unspecified thyroid disease |
| II-2 | Yes | F | 36 | 23 | 26.88 | DM | Insulin | NA | NA | 8.3 | 67 | NA | NA | 0.53 | Unspecified cardiac arrhythmia |
| II-3 | Yes | F | 33 | 10 | 21.35 | DM | Insulin | 183 | NA | 10.4 | 90 | NA | NA | 0.57 | Myocardial infraction |
| II-5 | Yes | F | 40 | — | 19.77 | NG | None | 107 | 47 | 4.9 | 30 | 4.2 | 2.7 | NA | Unspecified cardiac arrhythmia |
| III-1 | Yes | F | 5 | 2 | 16.02 | DM | Insulin | 295 | NA | 7.2 | 55 | NA | NA | NA | Seizures |
DM, diabetes mellitus; F, female; FPG, fasting plasma glucose; HbA1c, glycated hemoglobin; M, male; NA, not available; NG, normal glucose; OGTT, oral glucose tolerance test; OHA, oral antidiabetes agents; PD, prediabetes (as indicated by HbA1c ≥5.7%, according to American Diabetes Association criteria); PG, plasma glucose.