{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,3]],"date-time":"2024-02-03T20:01:58Z","timestamp":1706990518097},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:p>Hypocalcemia and hyperphosphatemia with low\/normal parathyroid hormone (PTH) levels can be observed in hypoparathyroidism (HP), a disorder that may follow an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. Similar biochemical changes are also observed in pseudohypoparathyroidism (PHP) type Ia and Ib, but affected patients usually show elevated PTH levels indicative of hormonal resistance. Features of Albright's hereditary osteodystrophy (AHO) are typically not observed in patients affected by familial forms of PHP-Ib, which are most frequently caused by maternally inherited, heterozygous microdeletions within <jats:italic>STX16<\/jats:italic> and are associated with isolated loss of methylation at <jats:italic>GNAS<\/jats:italic> exon A\/B.<\/jats:p><jats:p>We established the molecular defect in two children of consanguineous Turkish parents, who presented with hypocalcemia, hyperphosphatemia, and low 25-OH vitamin D levels, but initially normal or only mildly elevated PTH levels, i.e. findings that do not readily exclude HP. After normalizing serum magnesium levels, hypocalcemia and hyperphosphatemia persisted, and PTH levels increased, suggesting PTH resistance rather than PTH deficiency. Because of the absence of AHO and parental consanguinity, an AR form of PHP-Ib appeared plausible, which had previously been suggested for sporadic cases. However, loss of <jats:italic>GNAS<\/jats:italic> methylation was restricted to exon A\/B, which led to the identification of the 3-kb <jats:italic>STX16<\/jats:italic> microdeletion. The same mutation was also detected in the healthy mother, who did not show any <jats:italic>GNAS<\/jats:italic> methylation abnormality, indicating that her deletion resides on the paternal allele.<\/jats:p><jats:p>Our findings emphasize the importance of considering a parentally imprinted, AD disorder even if consanguinity suggests an AR mode of inheritance.<\/jats:p>","DOI":"10.1530\/eje-10-0348","type":"journal-article","created":{"date-parts":[[2010,6,11]],"date-time":"2010-06-11T02:18:36Z","timestamp":1276222716000},"page":"489-493","update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":4,"title":["Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib"],"prefix":"10.1093","volume":"163","author":[{"given":"Serap","family":"Turan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyla","family":"Akin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teoman","family":"Akcay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdal","family":"Adal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevil","family":"Sarikaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"issue":"4","key":"2_9185990","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1172\/JCI114811","volume":"86","author":"Arnold","year":"1990","journal-title":"Journal of Clinical Investigation","ISSN":"http:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"10","key":"3_10996903","doi-asserted-by":"publisher","first-page":"3792","DOI":"10.1210\/jc.84.10.3792","volume":"84","author":"Sunthornthepvarakul","year":"1999","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"5","key":"4_37703473","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1093\/hmg\/5.5.601","volume":"5","year":"1996","journal-title":"Human Molecular Genetics","ISSN":"http:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"8","key":"5_11360037","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1172\/JCI200113180","volume":"108","author":"Ding","year":"2001","journal-title":"Journal of Clinical Investigation","ISSN":"http:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"9","key":"6_31347328","doi-asserted-by":"publisher","first-page":"3568","DOI":"10.1210\/jc.2007-2167","volume":"93","year":"2008","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"5","key":"8_11347368","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1210\/er.22.5.675","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocrine Reviews","ISSN":"http:\/\/id.crossref.org\/issn\/0163-769X","issn-type":"print"},{"issue":"6","key":"9_28262026","doi-asserted-by":"publisher","first-page":"2370","DOI":"10.1210\/jc.2006-2287","volume":"92","year":"2007","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"3","key":"10_30236530","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1210\/jc.2007-0927","volume":"93","year":"2008","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"key":"11_37917968","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1097\/MAJ.0b013e31815b218f","volume":"336","year":"2008","journal-title":"American Journal of the Medical Sciences"},{"issue":"8","key":"12_17859913","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1172\/JCI200319159","volume":"112","author":"Bastepe","year":"2003","journal-title":"Journal of Clinical Investigation","ISSN":"http:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"5","key":"13_18775052","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1086\/429932","volume":"76","author":"Linglart","year":"2005","journal-title":"American journal of human genetics","ISSN":"http:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"1","key":"14_18594039","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng1560","volume":"37","author":"Bastepe","year":"2005","journal-title":"Nature genetics","ISSN":"http:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"6","key":"16_30034698","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1111\/j.1365-2265.2007.02969.x","volume":"67","author":"Linglart","year":"2007","journal-title":"Clinical endocrinology","ISSN":"http:\/\/id.crossref.org\/issn\/0300-0664","issn-type":"print"},{"issue":"8","key":"17_19269562","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.tig.2005.06.008","volume":"21","author":"Morison","year":"2005","journal-title":"Trends in genetics : TIG","ISSN":"http:\/\/id.crossref.org\/issn\/0168-9525","issn-type":"print"},{"key":"18_35341966","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1146\/annurev-genom-082908-150026","volume":"10","author":"Renfree","year":"2009","journal-title":"Annual review of genomics and human genetics","ISSN":"http:\/\/id.crossref.org\/issn\/1527-8204","issn-type":"print"},{"issue":"5","key":"19_17344541","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1530\/eje.0.1470561","volume":"147","author":"Polychronakos","year":"2002","journal-title":"European Journal of Endocrinology","ISSN":"http:\/\/id.crossref.org\/issn\/0804-4643","issn-type":"print"},{"key":"20_30733860","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-0-387-77576-0_3","volume":"626","author":"Bastepe","year":"2008","journal-title":"Advances in experimental medicine and biology","ISSN":"http:\/\/id.crossref.org\/issn\/0065-2598","issn-type":"print"},{"key":"21_37917969","first-page":"641","volume":"19","year":"2006","journal-title":"JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM"},{"key":"22_30352093","first-page":"318","volume":"3","year":"2006","journal-title":"PEDIATRIC ENDOCRINOLOGY REVIEWS"},{"key":"23_36912962","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.beem.2006.09.001","volume":"20","year":"2006","journal-title":"BEST PRACTICE RESEARCH CLINICAL ENDOCRINOLOGY METABOLISM"},{"issue":"20","key":"24_6165893","doi-asserted-by":"publisher","first-page":"11798","DOI":"10.1073\/pnas.95.20.11798","volume":"95","author":"Juppner","year":"1998","journal-title":"PNAS","ISSN":"http:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"12","key":"25_18552815","doi-asserted-by":"publisher","first-page":"5942","DOI":"10.1210\/jc.2004-0249","volume":"89","author":"Laspa","year":"2004","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"http:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"4","key":"26_11439863","first-page":"277","volume":"43","author":"Tun\u00a0\u00a0bilek","year":"2001","journal-title":"The Turkish journal of pediatrics","ISSN":"http:\/\/id.crossref.org\/issn\/0041-4301","issn-type":"print"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/163\/3\/489.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/163\/3\/489.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:25:13Z","timestamp":1676391913000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/163\/3\/489\/6676723"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":23,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/eje-10-0348","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}