{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T05:39:21Z","timestamp":1771911561728,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["310150\/2016\u20107"],"award-info":[{"award-number":["310150\/2016\u20107"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006162","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Ci\u00eancia e Tecnologia do Estado de Pernambuco","doi-asserted-by":"publisher","award":["IBPG\u20100749\u20102.02\/16"],"award-info":[{"award-number":["IBPG\u20100749\u20102.02\/16"]}],"id":[{"id":"10.13039\/501100006162","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006162","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Ci\u00eancia e Tecnologia do Estado de Pernambuco","doi-asserted-by":"publisher","award":["IBPG\u20100750\u20102.02\/16"],"award-info":[{"award-number":["IBPG\u20100750\u20102.02\/16"]}],"id":[{"id":"10.13039\/501100006162","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":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, macrocephaly, typical facial features, and muscle wasting, is caused by heterozygous variants in the <jats:italic>ZBTB20<\/jats:italic> gene. We report the cases of two males diagnosed with PRIMS at different ages, emphasizing the likely progressive nature of the disorder, as well as the differences and similarities of presentation during infancy and adulthood. Patient 1 is a 2\u2010year\u2010old American male with a medical history marked by impaired hearing, developmental delays, and fainting spells. Patient 2 is a 28\u2010year\u2010old Brazilian male, who presents with a phenotype similar to that seen in Patient 1 with additional features of ectopic calcifications and prominent muscular and skeletal abnormalities. Additionally, Patient 2 has a history of fainting spells and diminished body height and weight, with the latter features having only been reported in one PRIMS patient so far. Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of <jats:italic>ZBTB20<\/jats:italic> (c.1822T&gt;C, p.Cys608Arg, de novo, and c.1873A&gt;G, p.Met625Val, respectively), consistent with PRIMS. Overall, these case reports highlight PRIMS's likely progressive nature and contribute to the understanding of the natural history of this condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.61297","type":"journal-article","created":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T04:18:28Z","timestamp":1563509908000},"page":"2228-2232","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with <i>ZBTB20<\/i> variants"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3150-8731","authenticated-orcid":false,"given":"Laura D.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Keizo Asami Laboratory Universidade Federal de Pernambuco  Recife Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rayssa L.","family":"Borges\u2010Medeiros","sequence":"additional","affiliation":[{"name":"Keizo Asami Laboratory Universidade Federal de Pernambuco  Recife Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenny","family":"Thies","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhonda E.","family":"Schnur","sequence":"additional","affiliation":[{"name":"Clinical Genomics Program, GeneDx  Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Lam","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Seattle Children's Hospital  Seattle Washington"},{"name":"Division of Genetic Medicine University of Washington  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7474-9266","authenticated-orcid":false,"given":"Jo\u00e3o R. M.","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Keizo Asami Laboratory Universidade Federal de Pernambuco  Recife Brazil"},{"name":"Neuropsychiatry Department Universidade Federal de Pernambuco  Recife Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38684"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33955"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38124"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61024"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3035"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0755-4982(05)84262-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000244"},{"key":"e_1_2_6_9_1","unstructured":"Hersh J. Schmitt E. Pancratz L. Dobiesz D. Autullo L. Goodin K. \u2026Ciliberto C.(2015).Primrose Syndrome: A New Case and Review. Paper presented at the meeting of the American College of Medical Genetics 2016 Annual Clinical Genetics Meeting.155(11) 1."},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37645"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.1982.tb00133.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.033"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23546"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01667-08"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0800647105"}],"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.61297","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61297","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61297","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T19:27:04Z","timestamp":1694201224000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,18]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1002\/ajmg.a.61297"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61297","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,18]]},"assertion":[{"value":"2019-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}