{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T23:07:40Z","timestamp":1776985660069,"version":"3.51.4"},"reference-count":39,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T00:00:00Z","timestamp":1690416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009609","name":"Hospital Infantil de M\u00e9xico Federico G\u00f3mez","doi-asserted-by":"publisher","award":["HIM\/2015\/036"],"award-info":[{"award-number":["HIM\/2015\/036"]}],"id":[{"id":"10.13039\/501100009609","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Opitz GBBB syndrome (GBBB) is an X\u2010linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Targeted exome sequencing analysis of a 380\u2010gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a NM_000381.4:c.608G&gt;A;p.(Arg203Gln) change in <jats:italic>MID1<\/jats:italic>, affecting the conformation of the B\u2010box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A new likely pathogenic variant on <jats:italic>MID1<\/jats:italic> c.608G&gt;A was found to be associated with Opitz GBBB syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2234","type":"journal-article","created":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T14:41:26Z","timestamp":1690468886000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant"],"prefix":"10.1002","volume":"11","author":[{"given":"Maryangel","family":"Perea\u2010Cabrera","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n en Malformaciones Cong\u00e9nitas Hospital Infantil de M\u00e9xico Federico 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