{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T13:56:25Z","timestamp":1781877385285,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T00:00:00Z","timestamp":1649462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Biallelic <jats:italic>TENM3<\/jats:italic> pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied among the patients indicating potential broad phenotypic spectrum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The present case was a 6\u2010month\u2010old male at diagnosis. The patient exhibited long philtrum, large ears, bilateral ptosis, and nystagmus. Ophthalmic tests showed that he had microcornea, iris and choroidal coloboma. The patient presented with global developmental delay (GDD). Trio\u2010whole exome sequencing and genome copy number sequencing were conducted to explore the disease\u2010causing mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome sequencing and genome copy number sequencing showed the presence of L1471F and E661G compound mutations in <jats:italic>TENM3<\/jats:italic>, which were inherited from the mother and father, respectively. Sanger sequencing was conducted to verify association of the mutations with the disease in the present family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Two <jats:italic>TENM3<\/jats:italic> variants were identified in a patient with Syndromic microphthalmia 15 in the present study. However, further studies should be conducted to explore the pathogenicity of the variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1948","type":"journal-article","created":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T12:49:49Z","timestamp":1649508589000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Microcornea, iris and choroidal coloboma, and global developmental delay caused by <scp><i>TENM3<\/i><\/scp> pathogenic variants in a Chinese patient"],"prefix":"10.1002","volume":"10","author":[{"given":"Youfeng","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Pediatrics Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Xu","sequence":"additional","affiliation":[{"name":"Beijing Chigene Translational Medicine Research Center Co., Ltd  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiyue","family":"Gu","sequence":"additional","affiliation":[{"name":"Beijing Chigene Translational Medicine Research Center Co., Ltd  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4837-9913","authenticated-orcid":false,"given":"Yan","family":"Huang","sequence":"additional","affiliation":[{"name":"Child Healthcare Department Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.71"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014\u20105793(88)80690\u20102"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9532"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature25463"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.icu.0000243020.82380.f6"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37667"},{"issue":"5","key":"e_1_2_11_8_1","first-page":"410","article-title":"The many faces of epidermal growth factor repeats","volume":"2","author":"Davis C. 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