{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:49:19Z","timestamp":1764172159909},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T00:00:00Z","timestamp":1441238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:sec><jats:label \/><jats:p>In Potocki\u2013Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1\u2009Mb in size at 11p11.2. The PSS\u2010associated genes <jats:italic>EXT2<\/jats:italic> and <jats:italic>ALX4<\/jats:italic>, together with <jats:italic>PHF21A<\/jats:italic>, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to <jats:italic>EXT2<\/jats:italic> and <jats:italic>ALX4<\/jats:italic>, a 1.1\u2009Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. Here, we report a male patient with partial PSS phenotypes including global developmental delay, craniofacial anomalies, minor limb anomalies, and micropenis. Using microarray, qPCR, RT\u2010qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, <jats:italic>SLC35C1<\/jats:italic> and <jats:italic>CRY2<\/jats:italic>, which resulted in a corroborating role of <jats:italic>PHF21A<\/jats:italic> in developmental delay and craniofacial anomalies. This microdeletion contains the least number of genes at 11p11.2 reported to date. Additionally, we also discuss the phenotypes observed in our patient with respect to those of published cases of microdeletions across the Potocki\u2013Shaffer interval. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37344","type":"journal-article","created":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T06:39:56Z","timestamp":1441262396000},"page":"3011-3018","source":"Crossref","is-referenced-by-count":17,"title":["A microdeletion encompassing <i>PHF21A<\/i> in an individual with global developmental delay and craniofacial anomalies"],"prefix":"10.1002","volume":"167","author":[{"given":"Jonathan D. J.","family":"Labonne","sequence":"first","affiliation":[{"name":"Section of Reproductive Endocrinology, Infertility and Genetics Department of Obstetrics and Gynecology Georgia Regents University Augusta Georgia"},{"name":"Department of Neuroscience and Regenerative Medicine Georgia Regents University Augusta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Vogt","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Service Birmingham Women's Hospital Birmingham United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Reali","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Service Birmingham Women's Hospital Birmingham United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Il\u2010Keun","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Animal Science Division of Applied Life Science Gyeongsang National University Jinju Gyeongsangnam\u2010do Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence C.","family":"Layman","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology, Infertility and Genetics Department of Obstetrics and Gynecology Georgia Regents University Augusta Georgia"},{"name":"Department of Neuroscience and Regenerative Medicine Georgia Regents University Augusta Georgia"},{"name":"Department of Physiology Medical College of Georgia Georgia Regents University Augusta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyung\u2010Goo","family":"Kim","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology, Infertility and Genetics Department of Obstetrics and Gynecology Georgia Regents University Augusta Georgia"},{"name":"Department of Neuroscience and Regenerative Medicine Georgia Regents University Augusta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.21.7256-7267.2001"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.03.004"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1122"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.534"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M208992200"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600506.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.07.163"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06034"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/35098574"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/83703"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35671"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36488"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.12.012"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-25"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36450"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0310-192"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/73523"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201366"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62963-2"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37344","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:29:00Z","timestamp":1696634940000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,3]]},"references-count":21,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1002\/ajmg.a.37344"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37344","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,3]]}}}