{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:38:12Z","timestamp":1790818692695,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T00:00:00Z","timestamp":1701820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Central precocious puberty (CPP) refers to a syndrome of early puberty initiation with a characteristic increase in the release of gonadotropin\u2010releasing hormone (GnRH); therefore, it is also called GnRH\u2010related precocious puberty. About a quarter of idiopathic central precocious puberty (ICPP) may be familial. Studies suggest that mutations of makorin ring finger protein 3 (MKRN3) can cause familial central precocious puberty (FCPP). In this report, we describe a Chinese female patient carrying a novel MKRN3 variant (c.980G&gt;A\/p.Arg327His) and presenting the CPP phenotype. This novel variant attenuated its own ubiquitination, degradation, and inhibition on the transcriptional and translational activity of GNRH1, which was verified through functional tests. We can consider this variant as a loss\u2010of\u2010function mutation, which subsides the inhibition of GnRH1\u2010related signaling and gives rise to GnRH\u2010related precocious puberty.<\/jats:p>","DOI":"10.1002\/ajmg.a.63460","type":"journal-article","created":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T09:59:20Z","timestamp":1701856760000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The functional study of a novel <scp>MKRN3<\/scp> missense mutation associated with familial central precocious puberty"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7679-9582","authenticated-orcid":false,"given":"Ziwei","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"You","sequence":"additional","affiliation":[{"name":"School of Biomedical Engineering, Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junqi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiya","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanyin","family":"Li","sequence":"additional","affiliation":[{"name":"Cancer Center, Shanghai Tenth People's Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenli","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(15)00418-0"},{"issue":"130","key":"e_1_2_8_3_1","first-page":"4486","article-title":"MKRN3 inhibits the reproductive axis through actions in kisspeptin\u2010expressing neurons","volume":"8","author":"Abreu A. 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