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Table 2 Clinical characteristics and molecular analysis of patients included in the present study

From: Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

pt ID GNAS point mut GNAS meth def Sex PTH TSH SS Ob RF Br MR/BD OS Additional features
1 No Yes F 183 2.7        
2 No Yes M 899 2.6   Yes      Long QT syndrome
3 No Yes M 258 4.1        Hypertension, Fahr syndrome, and renal damage
4 No Yes F 215 2.5        
5 No Yes M 454 4.9        
6 No Yes M 114 5.4        Subclinic hypothyroidism
7 No Yes M X      Yes    Long QT syndrome
8 No Yes F 152 0.29      Yes   Leukopenia, normocytic microcromica anemia, autoimmune primary hypothyroidism, and osteopenia
9 No Yes M 288 7        Asperger syndrome
10 No Yes F 615 1.8        Asthenia associated with lipothymia, genu valgo, andhypertension
11 No Yes M 338 2.1   Yes      LGA at birth
12 Yes No F 373 8.34       Yes Popliteal cyst, aortic stenosis, rGHRH, and genu valgo
13 Yes No F 83.6 1.49 Yes    Yes   Yes Irregular menses and hypertension
14 Yes No F X 4.48        
15 Yes No F 138 34      Yes   Oligohydramnios,congenital hyperthyroidism, rickets, spastic diplegia, and amenorrhea
16 No No F 10.6 7.9   Yes Yes Yes Yes   Cholelithiasis, hypoadrenalism
17 No No M 77 X     Yes    Congenital adrenal hyperplasia
18 No No F 77.3 1.65        Hashimoto thyroiditis, favism, and multiple fractures
19 No No F 37 X   Yes      Oligomenorrhoea
  1. Age (years at diagnosis)
  2. PTH PTH serum levels, normal range 10–65 pg/mL, TSH TSH serum levels, normal range 0.4–3.9 mU/L, X elevated, but value not available, Ob obesity, RF round face, MR/BD mental retardation and/or behavioral defects, Br brachydactyly, OS ectopic ossifications, SS short stature, LGA large for gestational age