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GNAS encodes the alpha-subunit of the stimulatory G protein (Gs\u03b1) and several splice variants thereof. PHP type Ia (PHP1A) is caused by heterozygous inactivating mutations involving the maternal exons 1-13. Heterozygosity of these maternal GNAS mutations cause PTH-resistant hypocalcemia and hyperphosphatemia because paternal Gs\u03b1 expression is suppressed in certain organs thus leading to little or no Gs\u03b1 protein in the proximal renal tubules and other tissues. Besides biochemical abnormalities, PHP1A patients show developmental abnormalities, referred to as Albright\u2019s hereditary osteodystrophy (AHO). Some, but not all of these AHO features are encountered also in patients affected by PPHP, who carry paternal Gs\u03b1-specific mutations and typically show no laboratory abnormalities. Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss of methylation at the A\/B DMR alone or at all maternally methylated GNAS exons. Loss of methylation of exon A\/B and the resulting biallelic expression of A\/B transcript reduces Gs\u03b1 expression thus leading to hormonal resistance. Epigenetic changes at all differentially methylated GNAS regions are also observed in sporadic PHP1B, which is the most frequent PHP1B variant. However, this disease variant remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q).<\/jats:p>","DOI":"10.1210\/clinem\/dgab060","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T13:51:18Z","timestamp":1612446678000},"page":"1541-1552","source":"Crossref","is-referenced-by-count":79,"title":["Molecular Definition of Pseudohypoparathyroidism Variants"],"prefix":"10.1210","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1420-5683","authenticated-orcid":false,"given":"Harald","family":"J\u00fcppner","sequence":"first","affiliation":[{"name":"Endocrine Unit, Department of Medicine and Pediatric Nephrology Unit, Department of Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2021,2,2]]},"reference":[{"issue":"12","key":"2021122205120102100_CIT0001","doi-asserted-by":"crossref","first-page":"5459","DOI":"10.1210\/en.2004-0865","article-title":"Minireview: GNAS: normal and abnormal functions","volume":"145","author":"Weinstein","year":"2004","journal-title":"Endocrinology."},{"key":"2021122205120102100_CIT0002","article-title":"Hypoparathyroidism and pseudohypoparathyroidism.","volume-title":"Endocrinology","author":"Levine","year":"2005","edition":"5th ed"},{"key":"2021122205120102100_CIT0003","first-page":"1147","article-title":"Pseudohypoparathyroidism, Albright\u2019s hereditary osteodystrophy, and progressive osseous heteroplasia: disorders caused by inactivating GNAS mutations.","volume-title":"Endocrinology","author":"Bastepe","year":"2016","edition":"7th 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