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

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

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

Age (years at diagnosis)
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

ISSN: 1868-7083