{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:49Z","timestamp":1789447429742,"version":"build-2803163510"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T00:00:00Z","timestamp":1207180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Context\u2002<\/jats:bold> The <jats:italic>GNAS<\/jats:italic> gene encodes the \u03b1\u2010subunit of the stimulatory G proteins, which play a crucial role in intracellular signal transduction of peptide and neurotransmitter receptors. Heterozygous inactivating maternally inherited mutations of <jats:italic>GNAS<\/jats:italic> (including translation initiation mutations, amino acid substitutions, nonsense mutations, splice site mutations and small insertions or deletions) lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.<\/jats:p><jats:p><jats:bold>Objective\u2002<\/jats:bold> We sought to identify the molecular defect in a patient who was thought to have PHP\u2010Ia.<\/jats:p><jats:p><jats:bold>Methods and results\u2002<\/jats:bold> The <jats:italic>GNAS<\/jats:italic> gene of a 5\u2010year\u2010old boy with brachydactily, mental retardation, pseudohypoparathyroidism and congenital hypothyroidism was investigated. We found a heterozygous inversion of exon 2 and part of intron 1 of <jats:italic>de novo<\/jats:italic> origin. Molecular studies of cDNA from blood RNA demonstrated that both the normal and the mutant variants were stable and that new splice\u2010sites were generated.<\/jats:p><jats:p><jats:bold>Conclusion\u2002<\/jats:bold> This report demonstrates the first evidence for an inversion at the <jats:italic>GNAS<\/jats:italic> gene responsible of pseudohypoparathyroidism type Ia.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2008.03255.x","type":"journal-article","created":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T15:41:22Z","timestamp":1207237282000},"page":"705-712","source":"Crossref","is-referenced-by-count":14,"title":["New mutation type in pseudohypoparathyroidism type Ia"],"prefix":"10.1111","volume":"69","author":[{"given":"Eduardo","family":"Fernandez\u2010Rebollo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Barrio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo","family":"P\u00e9rez\u2010Nanclares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atilano","family":"Carcavilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intza","family":"Garin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiomar P\u00e9rez","family":"De Nanclares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,10,14]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1001\/archinte.1979.03630390056022","article-title":"Pseudohypoparathyroidism: report on a family with four affected sisters","volume":"139","author":"Kinard R.E.","year":"1979","journal-title":"Archives of Internal Medicine"},{"key":"e_1_2_6_3_2","first-page":"922","article-title":"Pseudohypoparathyroidsm\u2010 an example of \u2018Seabright syndrome\u2019","volume":"30","author":"Albright F.","year":"1942","journal-title":"Endocrinology"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4612-1802-9_2"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.101"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.11.835"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.5.675"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10751"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.7.2081"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.23.8893"},{"key":"e_1_2_6_11_2","doi-asserted-by":"crossref","first-page":"8458","DOI":"10.1016\/S0021-9258(19)38910-0","article-title":"Alternative promoter and 5\u2032 exon generate a novel Gs\u03b1 mRNA","volume":"265","author":"Ishikawa Y.","year":"1990","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/372804a0"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.17.11657"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.835"},{"key":"e_1_2_6_15_2","doi-asserted-by":"crossref","first-page":"9587","DOI":"10.1016\/S0021-9258(18)67553-2","article-title":"Molecular basis for two forms of the G protein that stimulates adenylate cyclase","volume":"261","author":"Robishaw J.D.","year":"1986","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199005173222002"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.21.8287"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.10.4630"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000059752.07086.A2"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1086\/374566"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2006.19.S2.635"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2122"},{"key":"e_1_2_6_24_2","unstructured":"De Beur S.M.J. 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