Table 1.
Clinical profiles of probands with NROB2 mutations
| Family ID mutation | Y19 H53fsdel10 | eT23 L98fsdel9insAC | K63 R213C | Y118 R34X | Y120 R34X | NT5503 A195S | Reference ranges |
|---|---|---|---|---|---|---|---|
| Age at diagnosis, yr | 7 | 15 | 12 | 13 | 12 | 14 | — |
| Current age, yr | 14 | 46 | 35 | 17 | 18 | 19 | — |
| BMI at diagnosis, kg/m2 | 25.1 | 39.5 | 25.0 | 33.8 | 25.7 | 33.2 | <23 |
| Weight at birth,* g | 5,005 | ? | 4,000 | 3,200 | 4,500 | ? | Ref. 24 |
| OGTT† | |||||||
| 0 min | 13.2 (66) | 13.6 (78) | 7.0 (68) | 7.2 (309) | 7.5 (150) | 6.3 (220) | 3.3–6.2 (<60) |
| 30 min | 23.2 (108) | 18.6 (162) | 12.2 (264) | 11.9 (540) | 14.4 (294) | 10.6 (966) | (138–462) |
| 120 min | 23.2 (84) | 21.8 (380) | 10.5 (386) | 14.3 (1,080) | 18.6 (372) | 12.6 (1,170) | 6.7> (66–198) |
| AST, IU⋅liter−1 | 11 | 12 | 26 | 96 | 16 | 208 | 10–40 |
| ALT, IU⋅liter−1 | 14 | 7 | ND | 148 | 17 | 357 | 5–40 |
| LDH, IU⋅liter−1 | 404 | 303 | 353 | 464 | 380 | 667 | 230–420 |
| γ-GTP, IU⋅liter−1 | 9 | 6 | ND | 163 | 4 | 70 | 6–14 |
| T-Chol, mg⋅dl−1 | 164 | 190 | 233 | 149 | 152 | 38 | 120–219 |
| TG, mg⋅dl−1 | 66 | 132 | ND | 170 | 182 | 76 | 35–195 |
| NEFA, mEq⋅liter−1 | ND | 0.17 | ND | 0.86 | 0.79 | 0.87 | 0.15–0.55 |
| HDL, mg⋅dl−1 | 68 | 94 | 43 | 54 | 36 | 32 | 35–80 |
| LH, mIU⋅ml−1 | 2.5 | 4.4 | 5.1 | 0.81 | 1.6 | ND | 0.6–16.8 |
| FSH, mIU⋅ml−1 | 10.3 | 4.2 | 7.0 | 1.96 | 4.54 | ND | 1.6–19 |
| Estradiol, pg⋅ml−1 | <10 | 21.1 | ND | 31.2 | 10.1 | ND | 8–60 |
| Testosterone, ng⋅ml−1 | ND | 23.2 | ND | 2.48 | 2.27 | ND | <86 |
| Cortisol, μg⋅dl−1 | ND | 5.4 | 5.5 | 13.2 | 12.6 | 7.2 | 5–15 |
| ACTH, pg⋅ml−1 | ND | 30 | ND | ND | 28 | ND | <60 |
| Free T4, ng⋅dl−1 | 1.32 | 0.8 | 1.0 | 1.01 | 1.01 | ND | 0.8–1.7 |
| Leptin, ng⋅ml−1 | 8.8 | 22.4 | 5.5 | 16 | 6.5 | ND |
IU, international unit; AST, aspartate aminotransferase; ALT, alanine aminotransferase; LDH, lactate dehydrogenase; γ-GTP, γ-glutamyl transpeptidase; T-Chol, total cholesterol; TG, triglyceride; HDL, high density lipoprotein cholesterol; NEFA, nonesterified fatty acid; LH, luteinizing hormone; FSH, follicle-stimulating hormone; ACTH, adrenocorticotropic hormone; T4, thyroxine; ND, not done. Biochemical data in subjects Y19, Y118, Y120, and NT5503 were obtained at diagnosis of diabetes. Plasma leptin levels were recently measured (5–30 years after the diagnosis).
Subject Y118 was born immaturely due to mother's preeclampsia (birth weight > mean + 1.0 SD). The birth weight of subject NT5503 is unknown. The birth weight of the other subjects was higher than the mean + 1.5 SD. Reference ranges for weight at birth in Japanese are described by Nishida et al. (24).
OGTT, oral glucose tolerance test; the first numbers are plasma glucose in mmol⋅liter−1, and the numbers in parentheses are immunoreactive insulin in pmol⋅liter−1. Reference values for immunoreactive insulin are in the range of mean ± SD.