A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report

Detalhes bibliográficos
Autor(a) principal: Lucena, Pedro H.
Data de Publicação: 2022
Outros Autores: Nonaka, Carolina, Franceschi, Giulia Armani, Carneiro, Pedro, Sales, Henrique, Lucena, Mariana, Bandeira, Igor D., Solano, Bruno, Lucena, Rita
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/56923
Resumo: Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). . Fundação Maria Emília. Coordenação de Aperfeiçoamento de Pessoal de Nível Superior – Brasil (CAPES).
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spelling Lucena, Pedro H.Nonaka, CarolinaFranceschi, Giulia ArmaniCarneiro, PedroSales, HenriqueLucena, MarianaBandeira, Igor D.Solano, BrunoLucena, Rita2023-02-07T15:18:58Z2023-02-07T15:18:58Z2022LUCENA, Pedro H. et al. A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report. Cureus, v. 14, n. 10, p. 1-6, 2022.2168-8184https://www.arca.fiocruz.br/handle/icict/5692310.7759/cureus.30486Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). . Fundação Maria Emília. Coordenação de Aperfeiçoamento de Pessoal de Nível Superior – Brasil (CAPES).Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil.Instituto D’Or para Pesquisa e Educação. Centro de Biotecnologia e Terapia Celular. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Medicina da Bahia. Salvador, BA, Brasil.Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil.Department of Psychiatry and Behavioral Sciences. Stanford University. Stanford, USA.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil.Universidade Federal da Bahia. Departamento de Neurociências e Saúde Mental. Salvador, BA, Brasil.chuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilaginous structures, inducing craniofacial alterations predominantly in a dominant-negative fashion. In this paper, we report a novel variant of PACS1 associated with Schuurs-Hoeijmakers syndrome: a boy aged two years and nine months of indigenous descent presenting with motor stereotypies, atypical sensory searches, language delay, and low socio-interactional reciprocity. Whole exome sequencing confirmed the presence of a heterozygous missense mutation c.943C>T p. (Arg315Trp) in the PACS1 gene. The phenotypic profile identified was similar to the other cases of Schuurs-Hoeijmakers syndrome described in the literature. This report highlights the importance of considering the possibility of PACS1 gene alterations and a diagnosis of Schuurs-Hoeijmakers syndrome in patients presenting craniofacial alterations associated with autistic features, psychomotor and language development delay.engSpringer NatureSíndrome de schuur-hoeijmakersPacs1Atraso no neurodesenvolvimentoTranstorno do Espectro Autista (TEA),Deficiência intelectual (id)Schuur-hoeijmakers’ syndromePacs1Neurodevelopmental delayAutism spectrum disorder (asd)Intellectual disability (id)Transtorno do Espectro AutistaDeficiência IntelectualA novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case reportinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/56923/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALLucena,P.H. A Novel PACS1 Variant Associated...2022.pdfLucena,P.H. A Novel PACS1 Variant Associated...2022.pdfapplication/pdf208099https://www.arca.fiocruz.br/bitstream/icict/56923/2/Lucena%2cP.H.%20A%20Novel%20PACS1%20Variant%20Associated...2022.pdf2a54964ab73dab7348f34a7f13e88226MD52icict/569232023-03-15 14:32:52.015oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-03-15T17:32:52Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.en_US.fl_str_mv A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
title A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
spellingShingle A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
Lucena, Pedro H.
Síndrome de schuur-hoeijmakers
Pacs1
Atraso no neurodesenvolvimento
Transtorno do Espectro Autista (TEA),
Deficiência intelectual (id)
Schuur-hoeijmakers’ syndrome
Pacs1
Neurodevelopmental delay
Autism spectrum disorder (asd)
Intellectual disability (id)
Transtorno do Espectro Autista
Deficiência Intelectual
title_short A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
title_full A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
title_fullStr A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
title_full_unstemmed A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
title_sort A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report
author Lucena, Pedro H.
author_facet Lucena, Pedro H.
Nonaka, Carolina
Franceschi, Giulia Armani
Carneiro, Pedro
Sales, Henrique
Lucena, Mariana
Bandeira, Igor D.
Solano, Bruno
Lucena, Rita
author_role author
author2 Nonaka, Carolina
Franceschi, Giulia Armani
Carneiro, Pedro
Sales, Henrique
Lucena, Mariana
Bandeira, Igor D.
Solano, Bruno
Lucena, Rita
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Lucena, Pedro H.
Nonaka, Carolina
Franceschi, Giulia Armani
Carneiro, Pedro
Sales, Henrique
Lucena, Mariana
Bandeira, Igor D.
Solano, Bruno
Lucena, Rita
dc.subject.other.en_US.fl_str_mv Síndrome de schuur-hoeijmakers
Pacs1
Atraso no neurodesenvolvimento
Transtorno do Espectro Autista (TEA),
Deficiência intelectual (id)
topic Síndrome de schuur-hoeijmakers
Pacs1
Atraso no neurodesenvolvimento
Transtorno do Espectro Autista (TEA),
Deficiência intelectual (id)
Schuur-hoeijmakers’ syndrome
Pacs1
Neurodevelopmental delay
Autism spectrum disorder (asd)
Intellectual disability (id)
Transtorno do Espectro Autista
Deficiência Intelectual
dc.subject.en.en_US.fl_str_mv Schuur-hoeijmakers’ syndrome
Pacs1
Neurodevelopmental delay
Autism spectrum disorder (asd)
Intellectual disability (id)
dc.subject.decs.en_US.fl_str_mv Transtorno do Espectro Autista
Deficiência Intelectual
description Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). . Fundação Maria Emília. Coordenação de Aperfeiçoamento de Pessoal de Nível Superior – Brasil (CAPES).
publishDate 2022
dc.date.issued.fl_str_mv 2022
dc.date.accessioned.fl_str_mv 2023-02-07T15:18:58Z
dc.date.available.fl_str_mv 2023-02-07T15:18:58Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.citation.fl_str_mv LUCENA, Pedro H. et al. A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report. Cureus, v. 14, n. 10, p. 1-6, 2022.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/56923
dc.identifier.issn.en_US.fl_str_mv 2168-8184
dc.identifier.doi.none.fl_str_mv 10.7759/cureus.30486
identifier_str_mv LUCENA, Pedro H. et al. A novel pacs1 variant associated with schuurs hoeijmakers syndrome phenotype in an indigenous descendant in Brazil: a case report. Cureus, v. 14, n. 10, p. 1-6, 2022.
2168-8184
10.7759/cureus.30486
url https://www.arca.fiocruz.br/handle/icict/56923
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/56923/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/56923/2/Lucena%2cP.H.%20A%20Novel%20PACS1%20Variant%20Associated...2022.pdf
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