{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T17:06:59Z","timestamp":1768410419554,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,29]],"date-time":"2020-06-29T00:00:00Z","timestamp":1593388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"National Key R&D Program of China","award":["2018YFC1002300"],"award-info":[{"award-number":["2018YFC1002300"]}]},{"name":"Beijing Laboratory for Cardiovascular Precision Medicine, Beijing, China","award":["PXM2017_014226_000037"],"award-info":[{"award-number":["PXM2017_014226_000037"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Syndromic microphthalmia\u20109 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in <jats:italic>STRA6<\/jats:italic>, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia\/aplasia, cardiac malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because of the rarity of clinical reports.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A comprehensive genotyping examination including copy number variation sequencing (CNV\u2010Seq) and whole\u2010exome sequencing (WES) was applied to a fetus of Han Chinese with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A, and left ventricular non\u2010compaction (LVNC).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No aneuploidy or pathogenic CNV were identified by CNV\u2010seq. WES analysis revealed a previously reported homozygous splice site (NM_022369.4:c.113+3_113+4del) in the <jats:italic>STRA6<\/jats:italic> gene. This variant was confirmed by Sanger sequencing. The diagnosis of MCOPS9 was confirmed given the identification of the <jats:italic>STRA6<\/jats:italic> mutation and the association of bilateral anophthalmia, pulmonary agenesis, and cardiac malformations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case adds to the phenotypic spectrum of MCOPS9, supporting the association with LVNC, and the presence of interruption of aortic arch further demonstrates the variability of the cardiac malformations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1377","type":"journal-article","created":{"date-parts":[[2020,6,29]],"date-time":"2020-06-29T10:50:03Z","timestamp":1593427803000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the phenotype of <i>STRA6<\/i>\u2010related disorder to include left ventricular non\u2010compaction"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5868-237X","authenticated-orcid":false,"given":"Hairui","family":"Sun","sequence":"first","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaomei","family":"Yu","sequence":"additional","affiliation":[{"name":"The Affiliated Hospital of Guizhou Medical University Guiyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxue","family":"Zhou","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Han","sequence":"additional","affiliation":[{"name":"Beijing Chao\u2010Yang Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongjia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Chao\u2010Yang Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihua","family":"He","sequence":"additional","affiliation":[{"name":"Beijing Anzhen Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.16.7386"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1136244"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910430107"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37389"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.7.1019"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38529"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2016.12.002"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.9.1007"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21883"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000850106"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1377","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1377","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1377","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T10:56:45Z","timestamp":1708513005000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,29]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/mgg3.1377"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1377","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,29]]},"assertion":[{"value":"2020-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1377"}}