{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T04:22:56Z","timestamp":1782966176234,"version":"3.54.5"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:00:00Z","timestamp":1769126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:00:00Z","timestamp":1769126400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PMP21\/00063"],"award-info":[{"award-number":["PMP21\/00063"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PMP22\/00049"],"award-info":[{"award-number":["PMP22\/00049"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100031478","name":"NextGenerationEU","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100031478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We describe three unrelated individuals with congenital generalized hypertrichosis with gingival hyperplasia (CGHGH), each carrying a distinct structural rearrangement (duplication, deletion, inversion) at 17q24.2\u2010q24.3 identified by CMA and WGS. Despite differences in the type of rearrangement, all three patients seem to exhibit alterations affecting the genomic architecture of a cluster of genes, particularly involving the\n                    <jats:italic>ABCA<\/jats:italic>\n                    family (notably\n                    <jats:italic>ABCA5, ABCA6, ABCA9, ABCA10<\/jats:italic>\n                    ),\n                    <jats:italic>MAP2K6<\/jats:italic>\n                    , and potassium channels (\n                    <jats:italic>KCNJ16, KCNJ2<\/jats:italic>\n                    ). These findings suggest that disruption of the local chromatin organization, including topologically associating domains (TADs), may contribute to the pathogenesis of CGHGH. Although previous studies implicated deletions affecting\n                    <jats:italic>ABCA5<\/jats:italic>\n                    as the likely cause of CGHGH, our findings emphasize a broader spectrum of structural variation capable of producing similar phenotypes. Interestingly, one patient involved a cryptic 1.2\u2009Mb inversion that disrupted the region between\n                    <jats:italic>ABCA9<\/jats:italic>\n                    and\n                    <jats:italic>KCNJ2<\/jats:italic>\n                    , detectable only by whole genome sequencing, reinforcing the need for advanced molecular diagnostics in patients with syndromic hypertrichosis. In all three individuals, gingival overgrowth co\u2010occurred with typical facial features, coarse hair, and normal cognitive development, adding evidence to the phenotype\u2013genotype correlation. Overall, this study strengthens the hypothesis that disruption of regulatory elements and chromatin architecture at 17q24.2\u2010q24.3, rather than single nucleotide variants alone, can be a primary driver of CGHGH. These findings underscore the need to incorporate genome\u2010wide structural variant analysis in the diagnostic workflow of rare developmental disorders, especially those with heterogeneous or subtle clinical presentations.\n                  <\/jats:p>","DOI":"10.1111\/cge.70133","type":"journal-article","created":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T08:16:01Z","timestamp":1769156161000},"page":"904-911","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2\u2010q24.3 Locus"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"Jair","family":"Tenorio\u2010Castano","sequence":"first","affiliation":[{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics, La Paz University Hospital  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras, ISCIII  Madrid Spain"},{"name":"ITHACA\u2010European Reference Network\u2010Hospital La Paz  Madrid Spain"},{"name":"Centro Universitario HM Hospitales de Ciencias de la Salud (CUHMED) Universidad Camilo Jos\u00e9 Cela  Madrid Espa\u00f1a"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2645-8904","authenticated-orcid":false,"given":"Marta","family":"Feito","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dermatology La Paz University Hospital\u2010UAM  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"de Lucas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dermatology La Paz University Hospital\u2010UAM  Madrid 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