Genomic Characterization of <i>STX16</i> Deletion in Pseudohypoparathyroidism

hypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).PHP-Ia and PHP-Ic feature hormone resistance and characteristics of Albright hereditary osteodystrophy (AHO), such as short stature and subcutaneous ossification.PHP-Ib is primarily involved in parathyroid hormone resistance.PPHP manifests as AHO without hormone resistance.POH involves progressive bone formation in the muscles and fascia, whereas OC involves ossification of the dermis and subcutaneous tissues.Diagnosis involves identifying the clinical features and genetic or epigenetic alterations affecting the GNAS locus.GNAS inactivation can be caused by pathogenic variants, imprinting issues, epimutations, or paternal 20q disomy.PPHP and POH/OC are caused by pathogenic variants of the paternal GNAS allele [1].PHP-1b is a rare imprinting disorder characterized by renal parathyroid hormone (PTH) resistance, but the absence of physical features of AHO [2].