{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T15:27:19Z","timestamp":1788449239395,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,15]],"date-time":"2019-12-15T00:00:00Z","timestamp":1576368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,12,15]],"date-time":"2019-12-15T00:00:00Z","timestamp":1576368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Meckel syndrome (MKS) is a pre\u2010 or perinatal multisystemic ciliopathic lethal disorder with an autosomal recessive mode of inheritance. Meckel syndrome is usually manifested with meningo\u2010occipital encephalocele, polycystic kidney dysplasia, postaxial polydactyly and hepatobiliary ductal plate malformation. Germline variants in\n                    <jats:italic>CEP290<\/jats:italic>\n                    cause MKS4. In this study, we investigated a 35\u2010years\u2010old Chinese female who was 17+1\u00a0weeks pregnant. She had a history of adverse pregnancy of having foetus with multiple malformations. We performed ultrasonography and identified the foetus with occipital meningoencephalocele and enlarged cystic dysplastic kidneys. So, she decided to terminate her pregnancy and further genetic molecular analysis was performed. We identified the aborted foetus without postaxial polydactyly. Histological examination of foetal kidney showed cysts in kidney and thinning of the renal cortex with glomerular atrophy. Whole exome sequencing identified a novel homozygous variant (c.2144T&gt;G; p.L715\n                    <jats:sup>*<\/jats:sup>\n                    ) in exon 21 of the\n                    <jats:italic>CEP290<\/jats:italic>\n                    in the foetus. Sanger sequencing confirmed that both the parents of the foetus were carrying this variant in a heterozygous state. This variant was not identified in two elder sisters of the foetus as well as in the 100 healthy individuals. Western blot analysis showed that this variant leads to the formation of truncated CEP290 protein with the molecular weight of 84 KD compared with the wild\u2010type CEP290 protein of 290 KD. Hence, it is a\n                    <jats:italic>loss\u2010of\u2010function<\/jats:italic>\n                    variant. We also found that the mutant cilium appears longer in length than the wild\u2010type cilium. Our present study reported the first variant of\n                    <jats:italic>CEP290<\/jats:italic>\n                    associated with MKS4 in Chinese population.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.14887","type":"journal-article","created":{"date-parts":[[2019,12,15]],"date-time":"2019-12-15T21:04:32Z","timestamp":1576443872000},"page":"1906-1916","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":87,"title":["Whole exome sequencing identified a homozygous novel variant in\n                    <i>CEP290<\/i>\n                    gene causes Meckel syndrome"],"prefix":"10.1111","volume":"24","author":[{"given":"Rui","family":"Zhang","sequence":"first","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Bao'an Women and Children's Hospital Jinan University Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoyun","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Bao'an Women and Children's Hospital Jinan University Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Han","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangfang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology Bao'an Maternity and Child Health Hospital Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Kuang","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Meng","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Bao'an Women and Children's Hospital Jinan University Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junnian","family":"Liu","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"},{"name":"BGI\u2010Shenzhen Beishan Industrial Zone Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruliang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pathology Bao'an Maternity and Child Health Hospital Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiwei","family":"Wang","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"He","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Bao'an Women and Children's Hospital Jinan University Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Li","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanning","family":"Guan","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengfang","family":"Yue","sequence":"additional","affiliation":[{"name":"BGI\u2010Genomics BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Medical Genetics School of Medicine Zhejiang University Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subrata","family":"Kumar Dey","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Centre for Genetic Studies School of Biotechnology and Biological Sciences Maulana Abul Kalam Azad University of Technology (Formerly West Bengal University of Technology) Kolkata India"},{"name":"Brainware University Barasat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanfang","family":"Zhu","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Bao'an Women and Children's Hospital Jinan University Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2481-4562","authenticated-orcid":false,"given":"Santasree","family":"Banerjee","sequence":"additional","affiliation":[{"name":"BGI\u2010Qingdao BGI\u2010Shenzhen Qingdao China"},{"name":"China National GeneBank BGI\u2010Shenzhen Shenzhen China"},{"name":"BGI\u2010Shenzhen Beishan Industrial Zone Shenzhen China"},{"name":"Brainware University Barasat India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/519494"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20614"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.08.002"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1714"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9489"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21239"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21116"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/519026"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1539-4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv123"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201008080"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx347"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp272"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2016.09.010"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.06.028"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/2046-2530-1-18"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1099-5"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-012-2411-6"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082552"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2015.05.008"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv242"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21057"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103469"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr151"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0265-z"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.028621"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201304153"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1786"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1805"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/519026"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0341-3"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl459"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.14887","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jcmm.14887","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.14887","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T15:01:59Z","timestamp":1788447719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.14887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,15]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1111\/jcmm.14887"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.14887","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,15]]},"assertion":[{"value":"2019-04-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}