Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/60904 |
Resumo: | Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP). Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). |
| id |
CRUZ_02a496fdd198387039bb1ba862db90e2 |
|---|---|
| oai_identifier_str |
oai:www.arca.fiocruz.br:icict/60904 |
| network_acronym_str |
CRUZ |
| network_name_str |
Repositório Institucional da FIOCRUZ (ARCA) |
| repository_id_str |
2135 |
| spelling |
Faria Jr, José Antonio DinizMoraes, Daniela R.Kulikowski, Leslie DomeniciBatista, Rafael LochGomes, Nathalia LisboaNishi, Mirian YumieZanardo, EvelinNonaka, Carolina Kymie VasquesSouza, Bruno Solano de FreitasMendonca, Berenice BilharinhoDomenice, Sorahia2023-10-25T14:26:04Z2023-10-25T14:26:04Z2023FARIA JR, José Antonio Diniz et al. Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development. Diagnostics, v. 13, n.13, p. 1-15, 2023.2075-4418https://www.arca.fiocruz.br/handle/icict/6090410.3390/diagnostics13132235Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP). Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).Universidade Federal da Bahia. Faculdade de Medicina. Salvador, BA, Brasil / Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Laboratório de Citogenômica e Patologia Molecular LIM/03. Hospital das Clínicas. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Laboratório de Citogenômica e Patologia Molecular LIM/03. Hospital das Clínicas. São Paulo, SP, Brasil.Centro de Biotecnologia e Terapia Celular. Hospital São Rafael. Salvador, BA, Brasil / Instituto D’Or de Pesquisa e Ensino. Salvador, BA, Brasil.Centro de Biotecnologia e Terapia Celular. Hospital São Rafael. Salvador, BA, Brasil / Instituto D’Or de Pesquisa e Ensino. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Salvador, BA, Brasil.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Universidade de São Paulo. Faculdade de Medicina. Hospital das Clínicas. Laboratório de Hormônios e Genética Molecular LIM/42. Unidade de Endocrinologia do Desenvolvimento. São Paulo, SP, Brasil.Background: Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with syndromic DSD of unknown etiology. Methods: Twenty-two patients with DSD and syndromic features were included in the study and underwent SNP-array analysis. Results: In two patients, the diagnosis of 46,XX SRY + DSD was established. Additionally, two deletions were revealed (3q29 and Xp22.33), justifying the syndromic phenotype in these patients. Two pathogenic CNVs, a 10q25.3-q26.2 and a 13q33.1 deletion encompassing the FGFR2 and the EFNB2 gene, were associated with genital atypia and syndromic characteristics in two patients with 46,XY DSD. In a third 46,XY DSD patient, we identified a duplication in the 14q11.2-q12 region of 6.5 Mb associated with a deletion in the 21p11.2-q21.3 region of 12.7 Mb. In a 46,XY DSD patient with delayed neuropsychomotor development and congenital cataracts, a 12 Kb deletion on chromosome 10 was found, partially clarifying the syndromic phenotype, but not the genital atypia. Conclusions: The SNP array is a useful tool for DSD patients, identifying the molecular etiology in 40% (2/5) of patients with 46,XX DSD and 17.6% (3/17) of patients with 46,XY DSD.engMDPIDistúrbios do desenvolvimento sexualVariação do número de cópiasMatriz SNPDisorders of sexual developmentCopy number variationSNP arrayTranstornos do Desenvolvimento SexualPolimorfismo de Nucleotídeo ÚnicoCytogenomic investigation of syndromic Brazilian patients with differences of sexual developmentinfo: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/60904/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALFaria, José A. . - Cytogenomic Investigation of Syndromic Brazilian.pdfFaria, José A. . - Cytogenomic Investigation of Syndromic Brazilian.pdfapplication/pdf1391504https://www.arca.fiocruz.br/bitstream/icict/60904/2/Faria%2c%20Jos%c3%a9%20A.%20.%20-%20Cytogenomic%20Investigation%20of%20Syndromic%20Brazilian.pdff6eecde4b5fdd04d10315600ccaff78dMD52icict/609042023-10-25 11:26:05.489oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-10-25T14:26:05Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.en_US.fl_str_mv |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| title |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| spellingShingle |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development Faria Jr, José Antonio Diniz Distúrbios do desenvolvimento sexual Variação do número de cópias Matriz SNP Disorders of sexual development Copy number variation SNP array Transtornos do Desenvolvimento Sexual Polimorfismo de Nucleotídeo Único |
| title_short |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| title_full |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| title_fullStr |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| title_full_unstemmed |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| title_sort |
Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development |
| author |
Faria Jr, José Antonio Diniz |
| author_facet |
Faria Jr, José Antonio Diniz Moraes, Daniela R. Kulikowski, Leslie Domenici Batista, Rafael Loch Gomes, Nathalia Lisboa Nishi, Mirian Yumie Zanardo, Evelin Nonaka, Carolina Kymie Vasques Souza, Bruno Solano de Freitas Mendonca, Berenice Bilharinho Domenice, Sorahia |
| author_role |
author |
| author2 |
Moraes, Daniela R. Kulikowski, Leslie Domenici Batista, Rafael Loch Gomes, Nathalia Lisboa Nishi, Mirian Yumie Zanardo, Evelin Nonaka, Carolina Kymie Vasques Souza, Bruno Solano de Freitas Mendonca, Berenice Bilharinho Domenice, Sorahia |
| author2_role |
author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Faria Jr, José Antonio Diniz Moraes, Daniela R. Kulikowski, Leslie Domenici Batista, Rafael Loch Gomes, Nathalia Lisboa Nishi, Mirian Yumie Zanardo, Evelin Nonaka, Carolina Kymie Vasques Souza, Bruno Solano de Freitas Mendonca, Berenice Bilharinho Domenice, Sorahia |
| dc.subject.other.en_US.fl_str_mv |
Distúrbios do desenvolvimento sexual Variação do número de cópias Matriz SNP |
| topic |
Distúrbios do desenvolvimento sexual Variação do número de cópias Matriz SNP Disorders of sexual development Copy number variation SNP array Transtornos do Desenvolvimento Sexual Polimorfismo de Nucleotídeo Único |
| dc.subject.en.en_US.fl_str_mv |
Disorders of sexual development Copy number variation SNP array |
| dc.subject.decs.en_US.fl_str_mv |
Transtornos do Desenvolvimento Sexual Polimorfismo de Nucleotídeo Único |
| description |
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP). Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). |
| publishDate |
2023 |
| dc.date.accessioned.fl_str_mv |
2023-10-25T14:26:04Z |
| dc.date.available.fl_str_mv |
2023-10-25T14:26:04Z |
| dc.date.issued.fl_str_mv |
2023 |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.citation.fl_str_mv |
FARIA JR, José Antonio Diniz et al. Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development. Diagnostics, v. 13, n.13, p. 1-15, 2023. |
| dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/60904 |
| dc.identifier.issn.en_US.fl_str_mv |
2075-4418 |
| dc.identifier.doi.none.fl_str_mv |
10.3390/diagnostics13132235 |
| identifier_str_mv |
FARIA JR, José Antonio Diniz et al. Cytogenomic investigation of syndromic Brazilian patients with differences of sexual development. Diagnostics, v. 13, n.13, p. 1-15, 2023. 2075-4418 10.3390/diagnostics13132235 |
| url |
https://www.arca.fiocruz.br/handle/icict/60904 |
| 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 |
MDPI |
| publisher.none.fl_str_mv |
MDPI |
| 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/60904/1/license.txt https://www.arca.fiocruz.br/bitstream/icict/60904/2/Faria%2c%20Jos%c3%a9%20A.%20.%20-%20Cytogenomic%20Investigation%20of%20Syndromic%20Brazilian.pdf |
| bitstream.checksum.fl_str_mv |
5a560609d32a3863062d77ff32785d58 f6eecde4b5fdd04d10315600ccaff78d |
| bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 |
| repository.name.fl_str_mv |
Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ) |
| repository.mail.fl_str_mv |
repositorio.arca@fiocruz.br |
| _version_ |
1813009294493220864 |