{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:32:09Z","timestamp":1787239929147,"version":"build-2736575974"},"reference-count":14,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pseudohypoparathyroidism (PHP) defines a rare group of disorders whose common feature is resistance to the parathyroid hormone. Patients with PHP-Ia display additional hormone resistance, Albright hereditary osteodystrophy (AHO) and reduced Gs\u03b1 activity in easily accessible cells. This form of PHP is associated with heterozygous inactivating mutations in Gs\u03b1-coding exons of\n                      <jats:italic>GNAS<\/jats:italic>\n                      , an imprinted gene locus on chromosome 20q13.3. Patients with PHP-Ib typically have isolated parathyroid hormone resistance, lack AHO features and demonstrate normal erythrocyte Gs\u03b1 activity. Instead of coding Gs\u03b1 mutations, patients with PHP-Ib display imprinting defects of\n                      <jats:italic>GNAS<\/jats:italic>\n                      , caused, at least in some cases, by genetic mutations within or nearby this gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>\n                      Two unrelated PHP families, each of which includes at least one patient with a Gs\u03b1 coding mutation and another with\n                      <jats:italic>GNAS<\/jats:italic>\n                      loss of imprinting, are reported here.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      One of the patients with\n                      <jats:italic>GNAS<\/jats:italic>\n                      imprinting defects has paternal uniparental isodisomy of chromosome 20q, explaining the observed imprinting abnormalities. The identified Gs\u03b1 coding mutations include a tetranucleotide deletion in exon 7, which is frequently found in PHP-Ia, and a novel single nucleotide change at the acceptor splice junction of intron 11.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These molecular data reveal an interesting mixture, in the same family, of both genetic and epigenetic mutations of the same gene.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2009.071001","type":"journal-article","created":{"date-parts":[[2009,10,26]],"date-time":"2009-10-26T20:35:19Z","timestamp":1256589319000},"page":"276-280","source":"Crossref","is-referenced-by-count":30,"title":["Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs\u03b1 coding mutations and\n                    <i>GNAS<\/i>\n                    imprinting defects"],"prefix":"10.1136","volume":"47","author":[{"given":"B","family":"Lecumberri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Fern\u00e1ndez-Rebollo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Sentchordi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Saavedra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Bernal-Chico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L F","family":"Pallardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M Jim\u00e9nez","family":"Bustos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"de Santiago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"P\u00e9rez de Nanclares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bastepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,10,26]]},"reference":[{"key":"2025100520532137000_47.4.276.1","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.5.675"},{"key":"2025100520532137000_47.4.276.2","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-0-387-77576-0_3","article-title":"The GNAS locus and pseudohypoparathyroidism","volume":"626","author":"Bastepe","year":"2008","journal-title":"Adv Exp Med Biol"},{"key":"2025100520532137000_47.4.276.3","unstructured":"Levine MA . Hypoparathyroidism and pseudohypoparathyroidism. In: De Groot LJ Jameson J , eds. Endocrinology. Philadelphia: W.B.Saunders, 2000:1133\u201353."},{"key":"2025100520532137000_47.4.276.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030393"},{"key":"2025100520532137000_47.4.276.5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2287"},{"key":"2025100520532137000_47.4.276.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0927"},{"key":"2025100520532137000_47.4.276.7","doi-asserted-by":"publisher","DOI":"10.1097\/MAJ.0b013e31815b218f"},{"key":"2025100520532137000_47.4.276.8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10431"},{"key":"2025100520532137000_47.4.276.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.12.1231"},{"key":"2025100520532137000_47.4.276.10","doi-asserted-by":"publisher","DOI":"10.1086\/320117"},{"key":"2025100520532137000_47.4.276.11","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200319159"},{"key":"2025100520532137000_47.4.276.12","doi-asserted-by":"publisher","DOI":"10.1086\/429932"},{"key":"2025100520532137000_47.4.276.13","doi-asserted-by":"publisher","DOI":"10.1038\/ng1560"},{"issue":"Suppl 2","key":"2025100520532137000_47.4.276.14","first-page":"647","article-title":"Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy","volume":"19","author":"Ahrens","year":"2006","journal-title":"J Pediatr Endocrinol Metab"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2009.071001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:53:28Z","timestamp":1759722808000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2009.071001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,26]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2010,4,22]]},"published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1136\/jmg.2009.071001"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2009.071001","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,26]]}}}