Table 1

Clinical and genetic characteristics of examined members from the family with the SLC19A2 heterozygous mutation

IDMutationSexAge (years)Age at diagnosis (years)BMI (kg/m2)DM statusCurrent treatmentFPG (mg/dL)PG 2 h after OGTT (mg/dL) HbA1cFasting insulin (μIU/mL)Insulin 2 h after OGTT (μIU/mL)Fasting C-peptide (ng/mL)TRMA clinical sign
(%)(mmol/mol)
I-1YesM663525.41DMInsulinNANA6.649NANA0.24
I-2NoF626226.88PDNone971616.24414141.6NA
II-1YesF382824.83DMOHANANA8.56912.1NANAUnspecified thyroid disease
II-2YesF362326.88DMInsulinNANA8.367NANA0.53Unspecified cardiac arrhythmia
II-3YesF331021.35DMInsulin183NA10.490NANA0.57Myocardial infraction
II-5YesF4019.77NGNone107474.9304.22.7NAUnspecified cardiac arrhythmia
III-1YesF5216.02DMInsulin295NA7.255NANANASeizures
  • 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.