title: [Gene abnormality associated with resistance to parathyroid hormone].
abstract: Pseudohypoparathyroidism (PHP) is characterized by PTH-resistant hypocalcemia and hyperphosphatemia. Patients with PHP-Ia exhibit Albright osteodystrophy and resistance to TSH and other hormones in addition to PTH. PHP-Ia is caused by heterozygous inactivating mutations in the GNAS1 gene which encodes Gsalpha protein. In PHP-Ib, resistance to PTH is confined to the renal tubules. Recent reports describe a paternally imprinted disorder in a region including the GNAS1 gene as the cause of PHP-Ib.
authors.affiliation: Department of Environmental Medicine, Osaka Medical Center and Institute for Maternal and Child Health.
authors.forename: K
authors.initials: K
authors.lastname: Ozono