Table 2.
Clinical features and molecular characterization of patients with GNAS gene mutations
| Pt | Sex | Age | AHO signs | Hormone resistances | GNAS gene mutation |
|---|---|---|---|---|---|
| A1 | F | 0.25 | OB | rPTH, rTSH | c.240 + 1G > T |
| A2 | F | 2 | BR, SO, MR, (OB), RF | rPTH, rTSH (12) | c.347_348insC |
| A3 | M | 3.68 | BR, MR, OB, RF | rPTH, rTSH | c.347_348insT |
| A4 | F | 1.53 | BR, SS, (OB), RF | rPTH, rTSH | c.1009C > T |
| A5 | F | 3.31 | BR*, MR, OB, RF | rPTH, rTSH | c.421_422del |
| A6 | M | 4.72 | BR, SO, MR, (OB/OW), RF | rPTH, rTSH | c.112delC |
| A7 | F | 5.8 | BR*, SS (6.8), OB/OW, RF | rPTH, rTSH | c.1177G > T |
| A8 | F | 7.19 | BR, SO (13), OB/OW (10.7), RF | rPTH, rTSH | c.348C > T |
| A9 | M | 23.17 | BR, MR, SS | rTSH, rFSH/LH | c.478G > A |
| A10 | F | 0.95 | SO, OB, RF | rPTH, rTSH | c.1009C > T |
| A11 | M | 8.2 | BR, SO, MR, SS, RF | rPTH, rTSH, rFSH/LH | c.103C > T |
| A12 | F | 12.73 | BR, OB/OW, RF | rPTH, rTSH | c.1177G > T |
| A13 | M | 12.72 | SS, RF | rPTH, rTSH | c.1177G > T |
| A14 | F | 4.45 | BR, SO, MR, RF | rPTH, rTSH, rFSH/LH | c.523_524del |
| A15 | M | 4.45 | BR, SO, MR, SS, OB/OW, RF | rPTH, rTSH | c.523_524del |
| A16 | M | 6.2 | SO, MR | rPTH, rTSH | c.212 + 2_212 + 6del |
| A17 | F | 2 | BR (10.3), SO, (OB) | rPTH, rTSH, rGHRH (10.3) | c.103C > T |
| A18 | F | 23.41 | BR, SO, MR, OB, RF | rPTH, rTSH | c.103C > T |
| A19 | F | 7.2 | BR | rPTH, rTSH | c.742G > C |
| A20 | F | 10.47 | BR, OB/OW | rPTH, rTSH | c.742G > C |
| A21 | M | 11.01 | BR, SS, OB, RF | rPTH, rTSH, rLH/FSH | c.1009C > T |
| A22 | M | 2 | BR* (8), SO, MR, OB (0.5), RF(11) | rTSH, rPTH (8) | c.521_522del |
| A23 | M | 11.23 | BR, MR, OB/OW, RF | rPTH, rTSH | c.805A > G |
| A24 | M | 10.1 | BR, SO, MR, RF | rPTH, rTSH | c.568_571del |
| A25 | F | 9.75 | BR, MR, SS, OB/OW, RF | rPTH, rTSH, rFSH/LH rIns | c.91C > T |
| A26 | F | 1.5 | BR, SO, MR, OB, RF | rPTH, rTSH, rIns | c.91C > T |
| A27 | F | 1.5 | SO, RF | rPTH, rTSH | c.568_571del |
| A28 | F | 4.6 | BR, SO, MR, SS, OB/OW, RF | rPTH, rTSH | c.568_571del |
| A29 | M | 1.3 | MR, OB, RF | rPTH, rTSH | c.568_571del |
| A30 | M | 1.3 | BR, MR (2.8), SS, (OB), RF | rPTH (2.8), rTSH, rGHRH | c.21dupT |
| A31 | F | 1.54 | SO, MR, OB/OW, RF | rTSH (1.9), rPTH (4) | c.347_348insT |
| A32 | F | 8.86 | BR, MR, OB, RF | rPTH, rTSH | c.481C > T |
| A33 | F | 8.43 | BR, MR, RF | rPTH, rTSH | c.568_571del |
| A34 | F | 14 | BR, MR, SS, OB/OW, RF | rPTH, rTSH | c.728C > T |
| A35 | M | 12.77 | BR, SO | rPTH, rTSH | c.110del |
| A36 | F | 16.8 | BR, SO, MR, OB/OW, RF | rPTH, rTSH | c.1021_1022ins23nt |
| A37 | F | 4.89 | BR*, MR, OB, RF | rPTH, rTSH | c.863_864del |
| A38 | F | 3.56 | BR, SO, SS, OB/OW, FR | rPTH, rTSH | c.87dupA |
| A39 | F | 0.1 | BR, SO, MR, (OB 0.1), RF | rPTH, rTSH, | c.568_571del |
| A40 | F | 0.94 | BR*, SS, (OB/OW), RF | rPTH | c.1177G > A |
| A41 | M | 2.32 | BR, SO, OB/OW, RF | rPTH, | c.347_348insC |
| A42 | F | 13.86 | BR, MR, RF | rTSH | c.97G > A |
| A43 | F | 0.91 | BR, MR, SS, OB, RF | rPTH, rTSH | c.363_364del |
| A44 | F | 14.38 | BR, SS | -- | c.568_571del |
| A45 | M | 14.15 | BR, SO | rPTH | c.103C > T |
| A46 | M | 6.61 | SO, OB/OW (9.11) | rPTH | c.103C > T |
Features that occurred prior to the first diagnosis or later in life are remarked in bulk and the corresponding age is noticed in parenthesis. Features that were present at the diagnosis but disappeared later in life are reported in parenthesis. A12 + A13; A14 + A15; A19 + A20; A25 + A26; A45 + A46 are couple of brothers and/or sisters