Clinical and genetic analysis of patients with cherubism

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dc.creatorRenato Machado
dc.creatorAlan Roger dos Santos-Silva
dc.creatorHélder Antônio Rebelo Pontes
dc.creatorLopes
dc.creatorRomán Carlos
dc.creatorRicardo Della Coletta
dc.creatorFelipe Paiva Fonseca
dc.date.accessioned2023-09-13T20:03:02Z
dc.date.accessioned2025-09-08T22:54:17Z
dc.date.available2023-09-13T20:03:02Z
dc.date.issued2017
dc.identifier.doihttps://doi.org/10.1111/odi.12705
dc.identifier.issn1354523X
dc.identifier.urihttps://hdl.handle.net/1843/58639
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofOral Diseases
dc.rightsAcesso Restrito
dc.subjectCherubism
dc.subjectGiant cells
dc.subjectMandible
dc.subjectMaxilla
dc.subjectGenes
dc.subjectMedical records
dc.subject.otherfao clínica busca dia 28 do 08 agosto ano 2023 assunto cherubism
dc.titleClinical and genetic analysis of patients with cherubism
dc.typeArtigo de periódico
local.citation.epage1115
local.citation.issue8
local.citation.spage1109
local.citation.volume23
local.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 disease
local.publisher.countryBrasil
local.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICA
local.publisher.initialsUFMG
local.url.externahttps://onlinelibrary.wiley.com/doi/10.1111/odi.12705

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