{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:32:14Z","timestamp":1747193534074,"version":"3.40.5"},"reference-count":9,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T00:00:00Z","timestamp":1646784000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T00:00:00Z","timestamp":1646784000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<b><i>Background:<\/i><\/b> <i>PHF21A<\/i>, along with <i>EXT2<\/i> and <i>ALX4<\/i>, is one of the causative genes of Potocki-Shaffer syndrome (PSS), a rare contiguous disorder involving chromosome region11p11.2. <i>PHF21A<\/i> has been associated with intellectual developmental disorders and craniofacial anomalies and suggested as a candidate for more extended phenotypes. However, variants in <i>PHF21A<\/i> and its associated phenotypes are yet to be fully explored, since reports on cases with variants affecting this gene are few worldwide. We present a novel heterogeneous variant in <i>PHF21A<\/i> in a 26-year-old Korean female. <b><i>Methods:<\/i><\/b> The patient\u2019s clinical manifestations were recorded and physical examination, cognitive assessment, brain imaging, metabolic screening, and cytogenetic testing including whole exome sequencing were pursued. <b><i>Results:<\/i><\/b> Whole exome sequencing identified a de novo nonsense variant c.1171A&#x3e;T (p.Lys391Ter), affecting the AT-hook domain. The patient showed an extended phenotypic spectrum along with intellectual developmental disorders and craniofacial anomalies, such as attention-deficit hyperactivity disorder, epilepsy, overgrowth, and hypotonia. Variants affecting the AT-hook domain are few in PSS, however, the phenotypic spectrum of the patient was in line with previously reported cases. <b><i>Conclusion:<\/i><\/b> This case further reinforced and adds to the extended data on the phenotypes associated with <i>PHF21A<\/i> haploinsufficiency. <\/jats:p>","DOI":"10.1159\/000520207","type":"journal-article","created":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T22:00:32Z","timestamp":1646863232000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["Novel Pathogenic Variant (c.1171A&#x3e;T) in <b><i>PHF21A<\/i><\/b> in a Female with Intellectual Disability and Craniofacial Anomalies"],"prefix":"10.1159","author":[{"given":"Cheonghwa","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9710-9253","authenticated-orcid":false,"given":"Borae G.","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baik-Lin","family":"Eun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Ah","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,3,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2217\/epi-2016-0090"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0289-x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.005"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-019-0286-0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37344"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37988"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.12.036"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13848"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/520207","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/520207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:27:15Z","timestamp":1745422035000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000520207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,9]]},"references-count":9,"URL":"https:\/\/doi.org\/10.1159\/000520207","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2022,3,9]]}}}