{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T18:22:20Z","timestamp":1766514140383,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"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":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe a 6\u2010year\u2010old child with a 12\u2010Mb deletion of the region 7q35q36.3.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the deleted genes, two genes have cardiac implications: <jats:italic>PRKAG2<\/jats:italic> (OMIM #602743), associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and <jats:italic>KCNH2<\/jats:italic> (OMIM #152427), coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment. At same time, the SHH gene (OMIM #600725), encoding sonic hedgehog, a secreted protein that is involved in the embryonic development, is deleted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.855","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T03:55:35Z","timestamp":1564113335000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long QT syndrome in chromosome 7q35q36.3 deletion involving <i>KCNH2<\/i> gene: Warning for chlorpheniramine prescription"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1758-7138","authenticated-orcid":false,"given":"Giuseppe","family":"Di Stolfo","sequence":"first","affiliation":[{"name":"Cardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Accadia","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital \u201cCardinale G. 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