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Table 3 Clinical features and molecular characterization of patients with GNAS locus altered methylation

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

Case Sex Age AHO signs Hormone resistances GNAS locus methylation alteration
B1 M 6.9 BR, MR, RF rPTH, rTSH (11) AB/NESP/AS/XL
B2 M 11.43 MR (3.5), RF rPTH AB/NESP/AS/XL
B3 F 7.5 -- rPTH AB/NESP/AS/XL
B4 F 65 BR, OB, RF rPTH, rLH/FSH AB/NESP/AS/XL
B5 F 5.2 MR, OB/OW, RF rPTH, rTSH AB/NESP/AS/XL
B6 F 9.95 RF rPTH AB/NESP/AS/XL
B7 M 15 BR rPTH AB/NESP/AS/XL
B8 F 13.26 -- rPTH AB/NESP/AS/XL
B9 M 12.13 -- rPTH AB/NESP/AS/XL
B10 F 6.55 MR, OB/OW rPTH, rTSH AB/NESP/AS/XL
B11 M 10.5 BR, OB/OW, RF rPTH AB/NESP/AS/XL
B12 M 37.5 BR, SS,OB/OW, RF rPTH AB/NESP/AS/XL
B13 F 9 RF rPTH AB/NESP/AS/XL
B14 F 0.5 OB/OW, RF rPTH, rTSH AB/NESP/AS/XL
B15 M 12.76 RF rPTH AB/NESP/AS/XL
B16 M 12.23 BR rPTH AB/NESP/AS/XL
B17 M 12 BR, OB, RF rPTH, rTSH AB/NESP/AS/XL
B18 M 16 BR*, OB/OW, RF rPTH, rGHRH AB/NESP/AS/XL
B19 F 4 BR*, OB/OW, RF rPTH, rTSH AB/NESP/AS/XL
B20 F 4.16 MR, OB/OW, RF rPTH, rTSH AB/NESP/AS/XL
B21 F 10.09 RF rPTH, rTSH AB/NESP/AS/XL
B22 F 7,41 BR rPTH AB/NESP/AS/XL
B23 F 5.5 BR, MR, RF rPTH AB/NESP/AS/XL
B24 F 23.5 BR, MR rPTH AB/NESP/AS/XL
B25 F 3.06 BR rPTH, rTSH (6) AB/NESP/AS/XL
B26 M 29 BR*, OB/OW rPTH Del at STX16 gene
B27 M 12.9 -- rPTH Del at STX16 gene
B28 F 19.6 SS, OB/OW, RF rPTH Del at STX16 gene
  1. Sex: Female (F), Male (M); Age: age at diagnosis or at first evaluation, expressed in years; AHO signs: brachydactyly (BR, in case of X-Ray study: BR*), subcutaneous ossifications (SO), mental retardation (MR), short stature (SS), obesity and overweight (OB/OW), round face (RF); Hormone resistances: PTH resistance (rPTH), TSH resistance (rTSH), FSH/LH resistance (rFSH/LH), GHRH resistance (rGHRH), Insulin resistance (rIns). 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