{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T23:51:50Z","timestamp":1772841110292,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T00:00:00Z","timestamp":1632268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>8q21.11\u00a0microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand\/feet abnormalities. To date, <jats:italic>ZFHX4<\/jats:italic>\u00a0is the only candidate gene implicated in the ocular findings. In this study, we evaluated a patient with a de novo 8q21.13\u201321.3 deletion to define a new small region of overlap (SRO) for this entity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a clinical evaluation and comparative genomic hybridization (CGH) 4x44K microarrays in a patient with de novo unbalanced translocation t(8;16)(q21; q11.2).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The case, a 6\u2010year\u2010old boy, presented dysmorphic features including an elongated face, brachycephaly with a high forehead, an underdeveloped ala, thin upper lip, micrognathia, low\u2010set ears, hypotonia, mild intellectual disability, cortical atrophy with thin corpus callosum defect, and an atrial septal defect. No ocular abnormalities were found. Microarray analysis revealed a 9.6\u00a0Mb interstitial\u00a08q21.11\u201321.3\u00a0deletion, not including the <jats:italic>ZFHX4<\/jats:italic>\u00a0gene. This microdeletion was confirmed in our patient through qPCR analysis, and both parents had a normal profile. Alignment analysis of our case defined a new SRO encompassing five genes. Among them, the <jats:italic>HEY1<\/jats:italic>\u00a0gene is involved in the embryonic development of the heart, central nervous system, and vascular system. <jats:italic>Hrt1<\/jats:italic>\/<jats:italic>Hey1<\/jats:italic> null mice show perinatal lethality due to congenital malformations of the aortic arch and its branch arteries. <jats:italic>HEY1<\/jats:italic>\u00a0has also been linked to the maintenance of neural stem cells, inhibition of oligodendrocyte differentiation, and myelin gene expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>HEY1<\/jats:italic> is a candidate gene for both neurological and cardiac features of the 8q21.11\u00a0microdeletion syndrome and might, therefore, explain specific components of its pathophysiology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1811","type":"journal-article","created":{"date-parts":[[2021,9,22]],"date-time":"2021-09-22T10:27:12Z","timestamp":1632306432000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["8q21.11 microdeletion syndrome: Delineation of <i>HEY1<\/i> as a candidate gene in neurodevelopmental and cardiac defects"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4836-8325","authenticated-orcid":false,"given":"Ikhlas","family":"Ben Ayed","sequence":"first","affiliation":[{"name":"Laboratory of Molecular and Cellular Screening Processes (LPCMC) Center of Biotechnology of Sfax University of Sfax Sfax Tunisia"},{"name":"Medical Genetics Department University Hedi Chaker Hospital of Sfax Sfax 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