{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T11:41:05Z","timestamp":1785584465609,"version":"3.56.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T00:00:00Z","timestamp":1646265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the <jats:italic>BRPF1<\/jats:italic> gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM <jats:bold>#<\/jats:bold>617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto\u2010axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of <jats:italic>BRPF1<\/jats:italic> gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.<\/jats:p>","DOI":"10.1002\/ajmg.a.62706","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T02:26:15Z","timestamp":1646360775000},"page":"1875-1880","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp><i>BRPF1<\/i><\/scp>\u2010associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3530-1826","authenticated-orcid":false,"given":"Josiane","family":"Souza","sequence":"first","affiliation":[{"name":"School of Medicine Pontificia Universidade Cat\u00f3lica do Paran\u00e1 (PUCPR)  Curitiba Puerto Rico Brazil"},{"name":"Department of Genetics Hospital Infantil Pequeno Pr\u00edncipe  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9005-6726","authenticated-orcid":false,"given":"Daniel Almeida","family":"do Valle","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Infantil Pequeno Pr\u00edncipe  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara Lucia Schmidt Ferreira","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Infantil Pequeno Pr\u00edncipe  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Bonilla","family":"Colom\u00e9","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Hospital Infantil Pequeno Pr\u00edncipe  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helio Afonso Ghizoni","family":"Teive","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Hospital de Cl\u00ednicas  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"da Silva Freitas","sequence":"additional","affiliation":[{"name":"Assistance Center for Cleft Lip and Palate \u2013 CAIF  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto Hirochi","family":"Herai","sequence":"additional","affiliation":[{"name":"School of Medicine Pontificia Universidade Cat\u00f3lica do Paran\u00e1 (PUCPR)  Curitiba Puerto Rico Brazil"},{"name":"Laboratory of Bioinformatics and Neurogenetics (LaBiN), Experimental Multiuser Laboratory (LEM), Graduate Program in Health Sciences, School of Medicine Pontificia Universidade Cat\u00f3lica do Paran\u00e1 (PUCPR)  Curitiba Puerto Rico Brazil"},{"name":"Research Division Buko Kaesemodel Institute  Curitiba Puerto Rico Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103691"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.248"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx142"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0259-2"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104002"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1812033"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.010"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00368"},{"key":"e_1_2_7_10_1","unstructured":"OMIM \u2010Online Mendelian Inheritance in Man(2021). 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