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Table 2 Clinical features and molecular characterization of patients with GNAS gene mutations

From: Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

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
  1. 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