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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/58639
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dc.creatorRenato Machadopt_BR
dc.creatorAlan Roger dos Santos-Silvapt_BR
dc.creatorHélder Antônio Rebelo Pontespt_BR
dc.creatorLopespt_BR
dc.creatorRomán Carlospt_BR
dc.creatorRicardo Della Colettapt_BR
dc.creatorFelipe Paiva Fonsecapt_BR
dc.date.accessioned2023-09-13T20:03:02Z-
dc.date.available2023-09-13T20:03:02Z-
dc.date.issued2017-
dc.citation.volume23pt_BR
dc.citation.issue8pt_BR
dc.citation.spage1109pt_BR
dc.citation.epage1115pt_BR
dc.identifier.doihttps://doi.org/10.1111/odi.12705pt_BR
dc.identifier.issn1354523Xpt_BR
dc.identifier.urihttp://hdl.handle.net/1843/58639-
dc.description.resumoObjective: To describe the clinical and genetic features of patients with cherubism. Material and methods: A descriptive analysis of 14 cases from nine different families was carried out. Clinicopathological, imaging, and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. Results: Females were more affected than males (8:6), and the mean age at diagnosis was 8.6 years (range 3-30 years). Eleven patients exhibited simultaneous bilateral involvement of the maxilla and mandible. Two patients did not have a familial history of cherubism. Progressive growth pattern was found in six patients and stable lesions were observed in other seven patients, whereas in one patient, complete spontaneous remission was documented during the follow-up (31 years). Mutations were found in 13 cases and included the typical heterozygous missense mutations R415Q, P418T, and P418H at exon 9 of SH3BP2. No correlation between the mutations and the clinical manifestations was observed. Conclusion: Three different point mutations in the SH3BP2 gene were detected with variable clinical involvement. Genotype-phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the diseasept_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofOral Diseasespt_BR
dc.rightsAcesso Restritopt_BR
dc.subjectfao clínica busca dia 28 do 08 agosto ano 2023 assunto cherubismpt_BR
dc.subject.otherCherubismpt_BR
dc.subject.otherGiant cellspt_BR
dc.subject.otherMandiblept_BR
dc.subject.otherMaxillapt_BR
dc.subject.otherGenespt_BR
dc.subject.otherMedical recordspt_BR
dc.titleClinical and genetic analysis of patients with cherubismpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://onlinelibrary.wiley.com/doi/10.1111/odi.12705pt_BR
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