Table 1.

Clinical manifestations and GNAS mutation analysis in patients affected with MAS

Pt.	Age (yr)	Sex	FD	CAL	PP	GH	HT	CS	Biopsy	Gsα-201c	XLαs-543c	NESP55d	Origin
1a	17	M	Yes	Yes	No	No	No	No	Bone lesion	CGT(R)/CAT(H)	na	CAT	Mat
2a	16	M	Yes	Yes	No	No	No	No	Bone lesion	CGT(R)/TGT(C)	CGT(R)	TGT	Mat
3a	28	F	Yes	Yes	Yes	No	Yes	No	Ovary	CGT(R)	CAT(H)	na.	Pat
4	18	F	Yes	Yes	Yes	Yes	No	No	Bone lesion	CGT(R)/CAT(H)	CGT(R)	CAT	Mat
5	5	F	Yes	Yes	Yes	No	No	No	Ovary	CGT(R)	CGT(R)	CGT	Wt
6a	13	M	Yes	Yes	No	Yes	No	Yes	Adrenals	CGT(R)/TGT(C)	CGT(R)	TGT	Mat
7	12	M	Yes	Yes	Yes	No	No	No	Bone lesion	CGT(R)	CGT(R)	CGT	Wt
8	6	F	Yes	Yes	Yes	No	No	No	Ovary	CGT(R)	CGT(R)	CGT	Wt
9b	11	F	No	No	No	No	Yes	No	Thyroid	CGT(R)	CAT(H)	na	Pat
10	12	F	Yes	Yes	Yes	No	No	No	Healthy Bone	CGT(R)	CGT(R)	CGT	Wt
10									Bone lesion	CGT(R)/CAT(H)	CAT(H)	CGT	Pat
11	0.5	M	No	Yes	No	No	No	Yes	Adrenals	CGT(R)/TGT(C)	TGT(C)	CGT	Pat
12	13	M	Yes	Yes	No	No	No	No	Bone lesion	CGT(R)/TGT(C)	TGT(C)	CGT	Pat

The age and the endocrine manifestations refer to the last evaluation performed. Pt., patient; FD, fibrous dysplasia; CAL, café-au-lait spots; PP, precocious puberty; GH, growth hormone secreting adenoma; HT, hyperthyroidism; CS, Cushing’s syndrome; Mat, maternal; Pat, paternal; Wt, Wild type; na, not amplified.

^apreviously reported by Mantovani et al.

^bpatient with toxic thyroid adenoma.

^cletters in parentheses are amino acids encoded by the nucleotide triplets.

^dnucleotide sequence corresponds to that encoding Gsα-201 and XLαs-543, but it is located in the 3′ untranslated region of NESP55.