Table 2 Phenotype and biochemical-hormonal features of siblings with PHP1A with GNAS inactivating mutation described in literature
From: Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A
AD | S | SS | OB | RF | BR | SO | CI | PTH | Ca | P | TSH | GH | FSH-LH | Mutation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mitsui et al. [12] | |||||||||||||||
Patient 1 | 10 | F | Y | Y | Y | Y | Y | No | Hi | N | Hi | Hi | N | N | Deletion of whole gene, mat |
Patient 2 | 10 | M | Y | No | Y | No | Y | No | Hi | Lo | Hi | Hi | N | N | Deletion of whole gene, mat |
Wang et al. [13] | |||||||||||||||
Patient 1 | 7 | M | Y | Y | Y | Y | Y | Un | Hi | Lo | Hi | Hi | Un | Un | c.277C > T in exon 4 p.(Gln93Ter), de novo |
Patient 2 | 5 | M | No | Y | No | Y | Y | Un | Hi | N | Hi | N | Un | Un | c.277C > T in exon 4 p.(Gln93Ter), de novo |
Pinsker et al. [14] | |||||||||||||||
Patient 1 | 2 | F | Y | Y | Un | Y | Y | Y | Un | Lo | Un | Hi | Un | Un | c.305C > A in exon 4 p.(Ala102Glu), mat |
Patient 2 | 1 | F | Y | No | No | Y | Y | Y | Hi | Lo | Un | Hi | Un | Un | c.305C > A in exon 4 p.(Ala102Glu), mat |
Walden et al. [15] | |||||||||||||||
Patient 1 | 3 | F | Y | Y | Y | Y | Y | Y | Hi | Lo | Hi | Hi | Un | Un | 4 bp deletion in exon 7, mat |
Patient 2 | 4 | M | Y | Y | Y | Y | Y | No | Hi | Lo | Hi | Hi | Un | Un | 4 bp deletion in exon 7, mat |
Kayemba-Kay’s et al. [16] | |||||||||||||||
Patient 6 | 4 | M | Un | Y | No | Y | No | Y | Hi | N | N | Hi | Lo | Un | c.344C > T in exon 5 p.(Pro115Leu), mat |
Patient 7 | 7 | F | Un | Y | Y | No | No | No | N | N | N | Hi | Un | Un | c.344C > T in exon 5 p.(Pro115Leu), mat |
Han et al. [17] | |||||||||||||||
Patient 6 | 9 | M | Y | Y | Y | Y | Y | Y | Hi | N | N | Hi | N | Un | c.348dup in exon 5 p.(Val117fs), mat |
Patient 7 | 9 | M | No | Y | Y | Y | No | Y | N | N | N | Hi | Un | Un | c.348dup in exon 5 p.(Val117fs), mat |