{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:32:58Z","timestamp":1760059978914,"version":"build-2065373602"},"reference-count":18,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T00:00:00Z","timestamp":1753747200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior (CAPES) of Brazil","award":["00.889.834\/0001-08"],"award-info":[{"award-number":["00.889.834\/0001-08"]}]},{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","award":["00.889.834\/0001-08"],"award-info":[{"award-number":["00.889.834\/0001-08"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Rubinstein\u2013Taybi Syndrome type 1 (RSTS1) is an uncommon autosomal dominant genetic disorder associated with neurodevelopmental impairments and multiple congenital anomalies, with an incidence of 1:100,000\u2013125,000 live births. The syndrome, caused by de novo mutations in the CREBBP gene, is characterized by phenotypic variability, including intellectual disability, facial dysmorphisms, and systemic abnormalities. The current case report describes a 15-year-old Brazilian female diagnosed with RSTS1 through whole-exome sequencing, which identified a de novo heterozygous missense mutation in the CREBBP gene (NM_004380.3; c.4393G &gt; C; p.Gly1465Arg), classified as pathogenic. The patient\u2019s clinical presentation included facial dysmorphisms, skeletal abnormalities, neurodevelopmental delay, psychiatric conditions, and other systemic manifestations. A comprehensive genetic counseling process facilitated the differential diagnosis and management strategies, emphasizing the importance of early and precise diagnosis for improving clinical outcomes. This report contributes to the growing knowledge of the genotype\u2013phenotype correlations in RSTS1, aiding in the understanding and management of this uncommon condition.<\/jats:p>","DOI":"10.3390\/genes16080910","type":"journal-article","created":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:37:23Z","timestamp":1753861043000},"page":"910","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Management of a Patient with Rubinstein\u2013Taybi Syndrome Type 1: A Case Report"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8155-8098","authenticated-orcid":false,"given":"Victor","family":"Santos","sequence":"first","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7266-6061","authenticated-orcid":false,"given":"Pedro Paulo Chaves de","family":"Souza","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0540-570X","authenticated-orcid":false,"given":"Talyta","family":"Campos","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2404-444X","authenticated-orcid":false,"given":"Hiane","family":"Winterly","sequence":"additional","affiliation":[{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2111-132X","authenticated-orcid":false,"given":"Tha\u00eds","family":"Vieira","sequence":"additional","affiliation":[{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Undergraduate Program, Academic Institute of Health and Biological Science, State University of Goi\u00e1s, Goi\u00e2nia 74690-900, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Gigonzac","sequence":"additional","affiliation":[{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Undergraduate Program, Academic Institute of Health and Biological Science, State University of Goi\u00e1s, Goi\u00e2nia 74690-900, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Honda","sequence":"additional","affiliation":[{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Pinto","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffael","family":"Zatarin","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8623-374X","authenticated-orcid":false,"given":"Fernando","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udio","family":"da Silva","sequence":"additional","affiliation":[{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Undergraduate Program, Academic Institute of Health and Biological Science, State University of Goi\u00e1s, Goi\u00e2nia 74690-900, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0753-3814","authenticated-orcid":false,"given":"Aparecido","family":"da Cruz","sequence":"additional","affiliation":[{"name":"Graduate Program in Genetics and Molecular Biology, Federal University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"},{"name":"Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Department of Goi\u00e1s, Goi\u00e2nia 74605-050, GO, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajmg.a.33153","article-title":"Two Patients with EP300 Mutations and Facial Dysmorphism Different from the Classic Rubinstein\u2013Taybi Syndrome","volume":"152","author":"Bartsch","year":"2010","journal-title":"Am. 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Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/8\/910\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:18:31Z","timestamp":1760033911000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/8\/910"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,29]]},"references-count":18,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["genes16080910"],"URL":"https:\/\/doi.org\/10.3390\/genes16080910","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2025,7,29]]}}}