Case Report
A Novel T55A Variant of Gsα Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis
Table 2
Reported GNAS mutations in exon 2.
| | Nucleotide position | Protein position | Mutation type | Observed phenotype | Reference |
| | c.144dupT | p.(Gly49Trpfs5) | Frameshift | AHO | [7] | | c.150dupA | p.(Ser51IIefs3) | Frameshift | PHPIa, PPHP | [8] | | c.188_189delTG | p.(Ser51IIefs3) | Frameshift | PHPIa, PPHP | [9] | | c.191A>T | p.(His64Leu) | Missense | PHPIa | [10] | | c.163A>G | p.(Thr55Ala) | Missense | Osteolysis, low BMD, frequent fractures | This case |
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Published GNAS mutations affecting exon 2. Adapted from Lemos and Thakker Human Mutation, 2015 [11].
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