Table 2 Reports on AN with or without HCH due to p. Lys650Thr of FGFR3
Patients | Onset age | Age | Gender | AN | HCH | Birth weight (g) | Height (cm) | BMI | FBG(74-105 mg/dL) | FINS (1.5–18.5μU/ml) | HOMA-IR | HbA1c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family 3[6] | ||||||||||||
1a | infancy | 4 | F | + | – | / | 105.5 (5.5y,8th) | 15.5 | normal | / | / | normal |
2 | / | 25 | M | + | – | / | 156 | 19.7 | / | / | / | / |
3 | / | 29 | F | + | – | / | 145 (<5th) | 30.5 | / | / | / | / |
4 | / | 11 | F | + | – | / | 139 (26th) | 21.2 | / | / | / | / |
Family 1[2] | ||||||||||||
5 | infancy | 51 | M | + | + | / | 144.3 | 26.4 | 190 | 5.3 | 2.4 | 7.9 |
6 | infancy | 49 | F | + | + | / | 141.2 | 28.1 | 81 | 3.6 | 0.7 | 4.4 |
7 | infancy | 46 | F | + | + | / | 145.5 | 26.9 | 92 | 4.4 | 0.9 | 4.9 |
8 | infancy | 40 | F | + | + | / | 149.4 | 28.3 | 87 | 5.1 | 1.1 | 4.8 |
9 | infancy | 35 | F | + | + | / | 153 | 25.8 | 85 | 3.9 | 0.8 | 4.3 |
10a | infancy | 16 | M | + | + | 3515 | / | 24.2 | 97 | 7.0 | 1.6 | 4.6 |
11 | infancy | 18 | F | + | + | / | 147.9 | 26.5 | 73 | 2.8 | 0.5 | 4.2 |
12 | infancy | 8 | M | + | + | / | / | 20.6 | 88 | 3.8 | 0.8 | 4.5 |
13 | infancy | 13 | M | + | + | / | / | 20.2 | 90 | 6.9 | 1.5 | 4.6 |
14 | infancy | 7 | M | + | + | / | / | 23 | 92 | 6.1 | 1.3 | 4.7 |
Family 5[1] | ||||||||||||
15a | 3 | 15 | F | + | – | / | / | / | / | / | / | / |
16 | / | / | F | + | – | / | / | / | / | / | / | / |
17 | / | / | F | + | – | / | / | / | / | / | / | / |
Family 2[3] | ||||||||||||
18a | 12 | 14 | M | + | + | / | 143 | 21.5 | / | / | / | / |
19 | / | / | M | + | + | / | / | / | / | / | / | / |
20 | / | / | M | + | + | / | / | / | / | / | / | / |
21 | / | / | M | + | + | / | / | / | / | / | / | / |
Family 4[4] | ||||||||||||
22a | 1 | 3 | M | + | + | 2883 | 91.7 (3-10th) | 19.4 | 76 | 8.8 | 1.6 | |
Family 6[5] | ||||||||||||
23a | 2 | 10 | M | + | + | / | 128 | 23.1 | / | 3.1 | / | / |
24 | / | 12 | F | + | + | / | 135 | 23.5 | / | / | / | / |
25 | / | 47 | M | + | + | / | 155 | 25 | / | / | / | / |
26 | / | 74 | F | + | + | / | 140 | 23 | / | / | / | / |
Current case | ||||||||||||
27a | 4 | 17 | F | + | – | 4000 | 146 | 24.4 | 88.2 | 13.78 | 3.0 | 5.1 |