hrp0089p2-p056 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

First Reported Cases of a Novel Variant of GNAS 1 Gene

Fafoula Olga , Panagiotakou Argyro , Grivas Grigorios , Fryssira Eleni , Kosteria Ioanna , Korovessi Paraskevi , Kostaridou Stavroula

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...