Rubinstein–Taybi syndrome in diverse populations

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorThe National Institutes of Health-
Autor(es): dc.contributorFDNA Inc.-
Autor(es): dc.contributorCollege of Health Sciences-
Autor(es): dc.contributorAll India Institute of Medical Sciences-
Autor(es): dc.contributorHospital de Pediatría Garrahan-
Autor(es): dc.contributorNational Research Centre-
Autor(es): dc.contributorHong Kong Special Administrative Region-
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorHospital San Juan de Dios (CCSS)-
Autor(es): dc.contributorNational Children's Hospital Dr. Carlos Sáenz Herrera (CCSS)-
Autor(es): dc.contributorUniversity of California San Francisco-
Autor(es): dc.contributorChildren's Hospital of The King's Daughters-
Autor(es): dc.contributorUniversity of Nebraska Medical Center-
Autor(es): dc.contributorUniversity of Rwanda-
Autor(es): dc.contributorGreenwood Genetic Center-
Autor(es): dc.contributorNigerian Air Force-
Autor(es): dc.contributorSchool of Dentistry-
Autor(es): dc.contributorUniversity of Colombo-
Autor(es): dc.contributorKapi'olani Medical Center and University of Hawai'i-
Autor(es): dc.contributorFederico II University-
Autor(es): dc.contributorTelethon Institute of Genetics and Medicine (TIGEM)-
Autor(es): dc.contributorUniversity of Cape Town-
Autor(es): dc.contributorInstituto de Medicina Genética-
Autor(es): dc.contributorUniversity of Malaya-
Autor(es): dc.contributorUniversity of Lagos-
Autor(es): dc.contributorAmerican College of Medical Genetics and Genomics-
Autor(es): dc.creatorTekendo-Ngongang, Cedrik-
Autor(es): dc.creatorOwosela, Babajide-
Autor(es): dc.creatorFleischer, Nicole-
Autor(es): dc.creatorAddissie, Yonit A.-
Autor(es): dc.creatorMalonga, Bryan-
Autor(es): dc.creatorBadoe, Ebenezer-
Autor(es): dc.creatorGupta, Neerja-
Autor(es): dc.creatorMoresco, Angélica-
Autor(es): dc.creatorHuckstadt, Victoria-
Autor(es): dc.creatorAshaat, Engy A.-
Autor(es): dc.creatorHussen, Dalia Farouk-
Autor(es): dc.creatorLuk, Ho-Ming-
Autor(es): dc.creatorLo, Ivan F. M.-
Autor(es): dc.creatorHon-Yin Chung, Brian-
Autor(es): dc.creatorFung, Jasmine L. F.-
Autor(es): dc.creatorMoretti-Ferreira, Danilo [UNESP]-
Autor(es): dc.creatorBatista, Letícia Cassimiro [UNESP]-
Autor(es): dc.creatorLotz-Esquivel, Stephanie-
Autor(es): dc.creatorSaborio-Rocafort, Manuel-
Autor(es): dc.creatorBadilla-Porras, Ramses-
Autor(es): dc.creatorPenon Portmann, Monica-
Autor(es): dc.creatorJones, Kelly L.-
Autor(es): dc.creatorAbdul-Rahman, Omar A.-
Autor(es): dc.creatorUwineza, Annette-
Autor(es): dc.creatorPrijoles, Eloise J.-
Autor(es): dc.creatorIfeorah, Ifeanyi Kanayo-
Autor(es): dc.creatorLlamos Paneque, Arianne-
Autor(es): dc.creatorSirisena, Nirmala D.-
Autor(es): dc.creatorDowsett, Leah-
Autor(es): dc.creatorLee, Sansan-
Autor(es): dc.creatorCappuccio, Gerarda-
Autor(es): dc.creatorKitchin, Carolyn Sian-
Autor(es): dc.creatorDiaz-Kuan, Alicia-
Autor(es): dc.creatorThong, Meow-Keong-
Autor(es): dc.creatorObregon, María Gabriela-
Autor(es): dc.creatorMutesa, Leon-
Autor(es): dc.creatorDissanayake, Vajira H. W.-
Autor(es): dc.creatorEl Ruby, Mona O.-
Autor(es): dc.creatorBrunetti-Pierri, Nicola-
Autor(es): dc.creatorEkure, Ekanem Nsikak-
Autor(es): dc.creatorStevenson, Roger E.-
Autor(es): dc.creatorMuenke, Maximilian-
Autor(es): dc.creatorKruszka, Paul-
Data de aceite: dc.date.accessioned2022-02-22T00:43:46Z-
Data de disponibilização: dc.date.available2022-02-22T00:43:46Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2020-11-30-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.61888-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/205219-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/205219-
Descrição: dc.descriptionRubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p <.001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p =.145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.-
Descrição: dc.descriptionNational Human Genome Research Institute-
Descrição: dc.descriptionMedical Genetics Branch National Human Genome Research Institute The National Institutes of Health-
Descrição: dc.descriptionFDNA Inc.-
Descrição: dc.descriptionDepartment of Child Health School of Medicine and Dentistry College of Health Sciences-
Descrição: dc.descriptionDivision of Genetics Department of Pediatrics All India Institute of Medical Sciences-
Descrição: dc.descriptionServicio de Genética Hospital de Pediatría Garrahan-
Descrição: dc.descriptionClinical Genetics Department Human Genetics and Genome Research Division National Research Centre-
Descrição: dc.descriptionCytogenetic Department Human Genetics and Genome Research Division National Research Centre-
Descrição: dc.descriptionDepartment of Health Clinical Genetic Service Hong Kong Special Administrative Region-
Descrição: dc.descriptionDepartment of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region-
Descrição: dc.descriptionDepartment of Genetics Institute of Biosciences Sao Paulo State University-UNESP-
Descrição: dc.descriptionRare and Orphan Disease Multidisciplinary Clinic Hospital San Juan de Dios (CCSS)-
Descrição: dc.descriptionMedical Genetics and Metabolism Department National Children's Hospital Dr. Carlos Sáenz Herrera (CCSS)-
Descrição: dc.descriptionDivision of Medical Genetics Department of Pediatrics & Institute for Human Genetics University of California San Francisco-
Descrição: dc.descriptionDivision of Medical Genetics and Metabolism Children's Hospital of The King's Daughters-
Descrição: dc.descriptionMunroe-Meyer institute for Genetics and Rehabilitation University of Nebraska Medical Center-
Descrição: dc.descriptionCentre for Human Genetics School of Medicine and Pharmacy College of Medicine and Health Sciences University of Rwanda-
Descrição: dc.descriptionGreenwood Genetic Center-
Descrição: dc.descriptionNigerian Air Force Hospital Nigerian Air Force-
Descrição: dc.descriptionMedical Genetics Service Specialty Hospital of the Armed Forces No. 1 International University of Ecuador Sciences of Life Faculty School of Dentistry-
Descrição: dc.descriptionHuman Genetics Unit Faculty of Medicine University of Colombo-
Descrição: dc.descriptionKapi'olani Medical Center and University of Hawai'i-
Descrição: dc.descriptionDepartment of Translational Medicine Section of Pediatrics Federico II University-
Descrição: dc.descriptionTelethon Institute of Genetics and Medicine (TIGEM)-
Descrição: dc.descriptionDivision of Human Genetics Faculty of Health Sciences University of Cape Town-
Descrição: dc.descriptionInstituto de Medicina Genética-
Descrição: dc.descriptionDepartment of Paediatrics Faculty of Medicine University of Malaya-
Descrição: dc.descriptionDepartment of Paediatrics College of Medicine University of Lagos-
Descrição: dc.descriptionAmerican College of Medical Genetics and Genomics-
Descrição: dc.descriptionDepartment of Genetics Institute of Biosciences Sao Paulo State University-UNESP-
Formato: dc.format2939-2950-
Idioma: dc.languageen-
Relação: dc.relationAmerican Journal of Medical Genetics, Part A-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectAfrica-
Palavras-chave: dc.subjectAsia-
Palavras-chave: dc.subjectfacial analysis technology-
Palavras-chave: dc.subjectLatin America-
Palavras-chave: dc.subjectMiddle East-
Palavras-chave: dc.subjectRubinstein–Taybi syndrome-
Título: dc.titleRubinstein–Taybi syndrome in diverse populations-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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