{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:37:25Z","timestamp":1790473045166,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T00:00:00Z","timestamp":1627430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and\/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. <jats:italic>DHX29<\/jats:italic> and <jats:italic>IL6ST<\/jats:italic> have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450\u2009kb (position 54.3\u201354.7\u00a0Mb). The narrowed region comprises 10 protein coding genes, including <jats:italic>DHX29<\/jats:italic>. <jats:italic>DHX29<\/jats:italic> is a strong candidate gene for the main features of 5q11.2\u2010microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62428","type":"journal-article","created":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T06:47:33Z","timestamp":1627541253000},"page":"3844-3850","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["5q11.2 deletion syndrome revisited\u2014Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4986-8006","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"first","affiliation":[{"name":"Institute for Regional Health Services University of Southern Denmark  Odense Denmark"},{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Centre  Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bayat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital of Aarhus  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Broers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emma Children's Hospital Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abeltje M.","family":"Polstra","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam UMC  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra J. 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