{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T14:04:35Z","timestamp":1776261875367,"version":"3.50.1"},"reference-count":26,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2017]]},"abstract":"<b><i>Background:<\/i><\/b> Little is known about the genetic causes responsible for idiopathic central precocious puberty (iCPP). More recently, described loss-of-function mutations in the makorin ring finger protein 3 <i>(MKRN3)<\/i> gene have been demonstrated to be involved in the pathogenesis of familial iCPP. <b><i>Aim:<\/i><\/b> The objective of this study was to investigate the potential role of <i>MKRN3<\/i> in patients with familial iCPP. <b><i>Methods:<\/i><\/b> We investigated potential sequence variations in the maternal imprinted <i>MKRN3<\/i> gene using Next Generation Sequencing (NGS) analysis in 31 participants from 2 families (6 participants were diagnosed with familial iCPP on the basis of clinical and hormonal findings). Six patients diagnosed with familial iCPP and their unaffected first- and second-degree relatives, including their grandparents, were screened for <i>MKRN3<\/i> gene variants. <b><i>Results:<\/i><\/b> Two heterozygous frameshift mutations (c.441_441delG, p.H148Tfs*23 and c803_803delAT, p.M268Vfs*23) were described in the <i>MKRN3 <\/i>gene in 2 probands with familial iCPP and in some of their family members. These frameshift mutations create a premature stop codon and result in a truncated protein. <b><i>Conclusions:<\/i><\/b> Our report further expands the <i>MKRN3<\/i> gene mutation spectrum in patients with familial iCPP. Screening for potential <i>MKRN3<\/i> variants should be performed in patients with familial iCPP as well as in patients with sporadic iCPP.<\/jats:p>","DOI":"10.1159\/000450923","type":"journal-article","created":{"date-parts":[[2016,10,31]],"date-time":"2016-10-31T22:01:31Z","timestamp":1477951291000},"page":"405-411","source":"Crossref","is-referenced-by-count":20,"title":["Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty"],"prefix":"10.1159","volume":"87","author":[{"given":"Enver","family":"Simsek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meliha","family":"Demiral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgul","family":"K\u0131rel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,11,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/MED.0b013e328320253c"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa035322"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1834399100"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.02.023"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.306"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1111184"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073443"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2421"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1302160"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-2491"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70254-7"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr667"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159\/000362815"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3126"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-4084"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/s12902-015-0056-8"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12854"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deu256"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0488"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.159"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1530\/JME-14-0315"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4462"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1488"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMe1306743"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1159\/000366282"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.783"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/450923","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/450923","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:16:53Z","timestamp":1745428613000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000450923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,1]]},"references-count":26,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,7,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000450923","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,1]]}}}