{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T21:17:17Z","timestamp":1779916637873,"version":"3.53.1"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T00:00:00Z","timestamp":1602288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771599"],"award-info":[{"award-number":["81771599"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81974240"],"award-info":[{"award-number":["81974240"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GZF1 was recently reported as a genetic factor associated with Larsen syndrome. Two patients presenting hip dislocation, scoliosis and severe myopia, as well as hearing loss and other abnormal features, were found to carry two novel compounds heterozygous variants in <jats:italic>GZF1<\/jats:italic> (c.397400del, p. Leu133fs; and c.1474del, p. Met492fs) through whole\u2010exome sequencing. The mRNA expression level of L133fs\u2010<jats:italic>GZF1<\/jats:italic> did not significantly differ from that of WT\u2010<jats:italic>GZF1<\/jats:italic>. However, no HA\u2010conjugated mutant protein was detected by western blotting, which was also confirmed by immunofluorescence staining. In addition, both mRNA transcription and protein expression levels of M492fs\u2010<jats:italic>GZF1<\/jats:italic> were significantly lower than those of wild type, and HA\u2010tagged M492fs\u2010GZF1 was mainly distributed in the cytoplasm of HEK 293\u2009T cells. These results suggested that the two variants could lead to loss of function of <jats:italic>GZF1<\/jats:italic>. Our study was the second to report the association between <jats:italic>GZF1<\/jats:italic> variants and Larsen syndrome. We also provided functional evidence for the pathogenicity of <jats:italic>GZF1<\/jats:italic> variants, which expands the mutation spectrum and offers a basis for functional research on the role of <jats:italic>GZF1<\/jats:italic> in the development of Larsen syndrome.<\/jats:p>","DOI":"10.1111\/cge.13856","type":"journal-article","created":{"date-parts":[[2020,10,3]],"date-time":"2020-10-03T09:51:33Z","timestamp":1601718693000},"page":"281-285","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel <scp><i>GZF1<\/i><\/scp> pathogenic variants identified in two Chinese patients with Larsen syndrome"],"prefix":"10.1111","volume":"99","author":[{"given":"Lanlan","family":"Zeng","sequence":"first","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhibin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Xiangya Hospital, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Pan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyan","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayu","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiying","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desheng","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7070-5896","authenticated-orcid":false,"given":"Lingqian","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics &amp; Hunan Key Laboratory of Medical Genetics School of Life Sciences, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(50)80268-8"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1754-4505.2010.00163.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.008"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309629200"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki734"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2007.07.003"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.015"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2010.09.015"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.09.001"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-020-0760-6"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/CRD.0000000000000170"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22012"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm114"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1319"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.006"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.60"},{"issue":"5","key":"e_1_2_10_18_1","first-page":"1104","article-title":"Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1\u201014.1 in the proximity of, but distinct from, the COL7A1 locus","volume":"57","author":"Vujic M","year":"1995","journal-title":"Am J Hum Genet"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13856","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13856","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T11:54:03Z","timestamp":1693742043000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,10]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1111\/cge.13856"],"URL":"https:\/\/doi.org\/10.1111\/cge.13856","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,10]]},"assertion":[{"value":"2020-07-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}