{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:38:27Z","timestamp":1790818707244,"version":"4.1.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"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> Mutations in the imprinted gene <i>MKRN3<\/i> have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, <i>DLK1<\/i> and <i>KCNK9<\/i>, have been associated with age at menarche. We investigated the prevalence of mutations in <i>MKRN3,<\/i> <i>DLK1<\/i>, and <i>KCNK9<\/i> genes<i><\/i> in a cohort of girls with idiopathic CPP. <b><i>Methods:<\/i><\/b> <i>MKRN3, DLK1<\/i>, and <i>KCNK9<\/i> coding regions were sequenced in 60 girls with idiopathic CPP (familial in 23 cases). <b><i>Results:<\/i><\/b> Three mutations, including a new one, in <i>MKRN3<\/i> were found in 2 familial cases (c.1229G&#x3e;A; p.Cys410Ter and c.477_485del; p.Pro160Cysfs*14) (8.7%) and in 1 sporadic case (c.982C&#x3e;T; p.Arg328Cys) (2.8%). We did not find rare variants in <i>DLK1<\/i> and <i>KCNK9<\/i> genes. <b><i>Conclusions:<\/i><\/b> (1) The prevalence of <i>MKRN3<\/i> mutations in our cohort was similar to that reported in the literature in sporadic cases but lower than previously described in familial ones. This could be due to different inheritance patterns of families studied; (2) we expanded the phenotype of MKRN3 defects describing 3 more patients with <i>MKRN3<\/i> mutations; and (3) point mutations in <i>DLK1<\/i> and <i>KCNK9<\/i> at least do not seem to be a common cause of CPP in girls.<\/jats:p>","DOI":"10.1159\/000477441","type":"journal-article","created":{"date-parts":[[2017,7,3]],"date-time":"2017-07-03T17:01:17Z","timestamp":1499101277000},"page":"194-200","source":"Crossref","is-referenced-by-count":52,"title":["Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty"],"prefix":"10.1159","volume":"88","author":[{"given":"Anna","family":"Grandone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Capristo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Cirillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Sasso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina\u00a0Rosaria","family":"Umano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Mariani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Miraglia\u00a0Del\u00a0Giudice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Perrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,7,3]]},"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/477441","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/477441","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:30:04Z","timestamp":1745411404000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000477441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":0,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2017,10,18]]},"published-print":{"date-parts":[[2017,10,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000477441","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}