{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:14Z","timestamp":1772160074033,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,13]],"date-time":"2022-11-13T00:00:00Z","timestamp":1668297600000},"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":["82200744"],"award-info":[{"award-number":["82200744"]}],"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":["81974084"],"award-info":[{"award-number":["81974084"]}],"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":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The \u201ctoe syndactyly, telecanthus and anogenital and renal malformations\u201d (STAR) syndrome is a rare X\u2010linked dominant inherited kidney ciliopathy caused by\n                    <jats:italic>CCNQ<\/jats:italic>\n                    gene mutations. Here, we investigated the genotype and phenotype in the first two twin sisters with a novel tail extension\n                    <jats:italic>CCNQ<\/jats:italic>\n                    variant in Asia. Genetic variants of the pedigree were screened using whole\u2010exome sequence analysis and validated by direct Sanger sequencing. The genetic function was investigated through cultured cells and zebrafish embryos transfected with mutant. The proband is suffered from end\u2010stage renal disease, telecanthus, scoliosis, anal atresia, bilateral hydronephrosis pyeloureter dilation and hearing loss, while her twin sister had milder phenotypes. A novel heterozygous variant c.502_518delinsA (p.Val168SerfsTer173) in\n                    <jats:italic>CCNQ<\/jats:italic>\n                    gene was identified in the twins and their asymptomatic mosaic mother. The concurrent deletion of 17 bases and insertion of one base variant led to the loss of 5 amino acids, subsequently caused a 96 more amino acids tail extension delaying the appearance of stop codon. The loss\u2010of\u2010function variant of\n                    <jats:italic>CCNQ<\/jats:italic>\n                    not only led to the impaired expression of cyclin M but also increased the binding affinity of CDK10\u2010cyclin M complex, which is different from the previous study. The research expanded the genotypic and phenotypic spectrum of STAR syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14255","type":"journal-article","created":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T00:41:47Z","timestamp":1666744907000},"page":"179-189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The identification of a novel\n                    <scp>\n                      <i>CCNQ<\/i>\n                    <\/scp>\n                    gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome"],"prefix":"10.1111","volume":"103","author":[{"given":"Ruochen","family":"Che","sequence":"first","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunli","family":"Wang","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songming","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"},{"name":"Jiangsu Key Laboratory of Pediatrics Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bixia","family":"Zheng","sequence":"additional","affiliation":[{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huixia","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xueqin","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guixia","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhanjun","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"},{"name":"Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University  Nanjing China"},{"name":"Jiangsu Key Laboratory of Pediatrics Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"},{"name":"Jiangsu Key Laboratory of Pediatrics Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics10121099"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2259-9"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.594"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.86"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1306814110"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38484"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38113"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21360"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000176"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1071407"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37078"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00081"},{"key":"e_1_2_10_15_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1782"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2016.1147632"}],"container-title":["Clinical 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