{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:19:39Z","timestamp":1777551579450,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>\n                    Heterotaxy syndrome, which causes significant morbidity and mortality, is a class of congenital disorders, in which normal left\u2013right asymmetry cannot be properly established. To explore the role of copy number variants (CNVs) in the occurrence of heterotaxy syndrome, we recruited 93 heterotaxy patients and studied 12 of them by the Affymetrix Genome-Wide Human SNP 6.0 Array. The results were confirmed in the remaining 81 patients and 500 healthy children by quantitative real-time polymerase chain reaction (qPCR). The analysis of the SNP6.0 array showed a duplication of chromosome 2q21.1, which was verified by qPCR. The result of qPCR in the other 81 patients showed that 8\/81 patients had the CNVs of 2q21.1 and the only overlapping gene in these patients is\n                    <jats:italic toggle=\"yes\">CFC1<\/jats:italic>\n                    . However, in the 500 healthy children, only one carried the duplication of\n                    <jats:italic toggle=\"yes\">CFC1<\/jats:italic>\n                    (\n                    <jats:italic toggle=\"yes\">p<\/jats:italic>\n                    =3.5\u00d710\n                    <jats:sup>\u22127<\/jats:sup>\n                    ). The duplication and deletion of\n                    <jats:italic toggle=\"yes\">CFC1<\/jats:italic>\n                    may play key roles in the occurrence of heterotaxy syndrome. Moreover, the transposed great arteries, double outlet right ventricle, single atrium, and single ventricle may share a common genetic etiology with the heterotaxy syndrome.\n                  <\/jats:p>","DOI":"10.1089\/dna.2014.2616","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T09:23:38Z","timestamp":1416907418000},"page":"101-106","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Duplication and Deletion of\n                    <i>CFC1<\/i>\n                    Associated with Heterotaxy Syndrome"],"prefix":"10.1177","volume":"34","author":[{"given":"Ruixue","family":"Cao","sequence":"first","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Long","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuejuan","family":"Xu","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Guo","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fen","family":"Li","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun","family":"Chen","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun","family":"Sun","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rang","family":"Xu","sequence":"additional","affiliation":[{"name":"Shanghai Jiao Tong University School of Medicine","place":["People's Republic of China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2015,2,1]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/81695"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01663"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1019645108"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-305"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/339079"},{"key":"e_1_3_3_7_1","first-page":"122","article-title":"Disorders of laterality and heterotaxy in the foetus","volume":"216","author":"Gottschalk I.","year":"2012","unstructured":"Gottschalk I., , Berg C., , and Heller R. 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