GNAS and pseudopseudohypoparathyroidism: The mechanism underlying PHP-Ia and PPHP is maternal or paternal inactivating mutations in GNAS respectively, which encodes Gsα, thus leading to abnormal signaling of cAMP-dependent pathways.[11] As in our case, a novel heterozygous 1- bp deletion in exon 4 (c.313delG) was found in the proband and her mother which is predicted to cause a frameshift mutation and might lead to a premature stop codon in the new frame, thus producing truncated gene products (p.Glu105Lysfs∗7).