{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:40:03Z","timestamp":1790818803258,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T00:00:00Z","timestamp":1667952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic\u2013pituitary\u2010gonadal axis (HPG). <jats:italic>MKRN3<\/jats:italic> defects are well\u2010known causes of CPP, while <jats:italic>DLK1<\/jats:italic> mutations were recently identified in a few patients with CPP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study was approved by the Institutional Review and the scientific committee of the hospital. The clinical data were collected. Whole\u2010exome sequencing (WES) was performed to detect causative variants. Key words \u2018DLK1\u2019, \u2018MKRN3\u2019, and \u201ccentral precocious puberty\u201d were used for literature search in PubMed, Google Scholar, HGMD, and OMIM databases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient, a male, whose puberty began before age nine, had significant metabolic abnormalities including overweight, hyperlipidemia, and hyperuricemia. WES detected a recurrent frame\u2010shift mutation, NM_003836.5:c.479delC(p.P160fs*50) in <jats:italic>DLK1<\/jats:italic> in the patient and his father.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The familial <jats:italic>DLK1<\/jats:italic>\u2010CPP was identified in China for the first time, which supported that short stature is predicted in patients with CPP without GnRHa treatment. Therefore, we recommend that children with <jats:italic>DLK1<\/jats:italic>\u2010CPP should be treated as early as possible to improve adult height. The patient in this study had persistent hyperuricemia, further suggests that this antiadipogenic factor represents a link between reproduction and metabolism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2087","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T07:16:35Z","timestamp":1668064595000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Chinese familial central precocious puberty with hyperuricemia due to recurrent <scp><i>DLK1<\/i><\/scp> mutation: Case report and review of the literature"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5632-3883","authenticated-orcid":false,"given":"Gaopin","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Pediatric endocrinology Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric endocrinology Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaofeng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric endocrinology Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2018.05.008"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u2010213X\u20108\u201011"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deaa306"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmh012"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.560720"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016\u20103677"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003\u2010030361"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmr050"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnut.2022.773220"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018\u201002010"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.53"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213\u20108587(15)00380\u20100"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102020\u20100014"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.10.002"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000438874"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa461"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.15.5585\u20105592.2002"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201020\u20100103"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2011.03.004"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/js.2019\u201000041"}],"container-title":["Molecular Genetics &amp; 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