Department of Oral Diagnosis (Pathology and Semiology), Piracicaba Dental School, University of Campinas, Piracicaba, Brazil.
Service of Oral Pathology, João de Barros Barreto University Hospital, Federal University of Pará, Belém, Brazil.
Oral Dis. 2017 Nov;23(8):1109-1115. doi: 10.1111/odi.12705. Epub 2017 Jul 21.
To describe the clinical and genetic features of patients with cherubism.
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.
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.
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.
描述 cherubism 患者的临床和遗传特征。
对来自 9 个不同家庭的 14 例患者进行描述性分析。从患者的病历中检索临床病理、影像学和随访数据，并与每位患者的遗传特征相关联。从颊黏膜细胞中提取基因组 DNA，对 SH3BP2 基因进行直接测序分析。
女性比男性更容易受到影响（8:6），诊断时的平均年龄为 8.6 岁（范围 3-30 岁）。11 例患者表现为上颌和下颌同时双侧受累。2 例患者无 cherubism 的家族史。6 例患者表现为进行性生长模式，7 例患者观察到稳定的病变，而 1 例患者在随访（31 年）期间记录到完全自发缓解。在 13 例中发现了突变，包括 SH3BP2 外显子 9 中的典型杂合错义突变 R415Q、P418T 和 P418H。未观察到突变与临床表现之间存在相关性。
在 SH3BP2 基因中检测到了三种不同的点突变，其临床受累程度不同。在 cherubism 患者中进行更大人群的基因型-表型关联研究，对于提供与疾病相关的分子机制的重要知识是必要的。
