{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T00:32:47Z","timestamp":1790641967642,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in components of the minor spliceosome have been associated with several human diseases. Recently, it was reported that biallelic <jats:italic>RNPC3<\/jats:italic> variants lead to severe isolated growth hormone deficiency and pituitary hypoplasia. The <jats:italic>RNPC3<\/jats:italic> gene codes for the U11\/U12\u201065K protein, a component of the minor spliceosome. The minor spliceosome plays a role in the splicing of minor (U12\u2010type) introns, which are present in ~700\u2013800 genes in humans and represent about 0.35% of all introns. Here, we report a second family with biallelic <jats:italic>RNPC3<\/jats:italic> variants in three siblings with a growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay\/intellectual deficiency and delayed puberty. These cases further confirm the association between biallelic <jats:italic>RNPC3<\/jats:italic> variants and severe postnatal growth retardation due to growth hormone deficiency. Furthermore, these cases show that the phenotype of this minor spliceosome\u2010related disease might be broader than previously described.<\/jats:p>","DOI":"10.1002\/ajmg.a.61632","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T07:24:15Z","timestamp":1590650655000},"page":"1952-1956","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Expanding the phenotype of biallelic <scp><i>RNPC3<\/i><\/scp> variants associated with growth hormone deficiency"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2327-1666","authenticated-orcid":false,"given":"Eline A.","family":"Verberne","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Faries","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cura\u00e7ao Medical Center  Willemstad Curacao"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel M. 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M.","family":"Mannens","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex V.","family":"Postma","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Medical Biology, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201303573"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38581"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.190280"},{"issue":"1","key":"e_1_2_8_5_1","first-page":"447","article-title":"Severe isolated growth hormone deficiency and myopathy in two brothers with RNPC3 mutation","volume":"84","author":"Guceva Z.","year":"2015","journal-title":"Hormone Research in P\u00e6diatrics"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI128545"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36955"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83178-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000110"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201809143"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.062844.117"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1932-x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1950-8"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1141"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2017.09.036"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61632","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61632","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61632","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T09:18:19Z","timestamp":1693905499000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,28]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1002\/ajmg.a.61632"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61632","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,28]]},"assertion":[{"value":"2020-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}