Clinical and genetic analysis of patients with cherubism

Machado, Renato Assis; Pontes, Hélder Antônio Rebelo; Pires, Fábio Ramôa; Silveira, Henrique Martins da; Bufalino, Andréia; Carlos, Río-Bocos; Tuji, Fabrício Mesquita; Alves, Davi Barroso; Santos‐Silva, Alan Roger; Lopes, M. A.; Capistrano, Hermínia Marques; Coletta, Ricardo D.; Fonseca, Felipe Paiva

doi:10.1111/odi.12705

Cited by 19 publications

(12 citation statements)

References 31 publications

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“…Forty-two studies assessed SH3BP2 mutations 4, . SH3BP2 mutations were detected in 101/108 (93.5%) cases.…”

Section: Sh3bp2 Gene Mutation Analysismentioning

confidence: 99%

“…The bone lesions and fibrous tissue expansions in cherubism increase before puberty and regress thereafter 2 , with the lesions becoming filled in by woven bone later in life 3 . However, the disease shows variable expressivity and the clinical presentation may range from asymptomatic bilateral mandibular/maxillary swelling to deforming, life-threatening bone lesions [4][5][6] . Although the microscopic features of this lesion are not unique as they resemble giant cell lesions of the jaws (giant cell granulomas), eosinophilic cuff-like perivascular deposits can be seen and are suggestive of cherubism 7 .…”

mentioning

confidence: 99%

“…This genetic alteration is present in approximately 80% of the cases 10 . Although case reports and series suggest that the patient's genotype is not a clinical determinant of the clinical phenotype 2,4 , the rarity of this disease can pose challenges to the analysis of any possible genotype-phenotype correlation.…”

mentioning

confidence: 99%

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Cherubism: a systematic literature review of clinical and molecular aspects

Guimarães

Gomes

Gomez

2021

International Journal of Oral and Maxillofacial Surgery

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The purpose of this review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic approaches, to provide more concise information about the disease. An electronic search was undertaken in September 2019. Eligibility criteria included publications having enough clinical, radiological, and histological information to confirm the diagnosis. A total of 260 publications reporting 513 cherubism cases were included. Familial history was observed in 310/458 cases (67.7%). SH3BP2 mutations were reported in 101/108 cases (93.5%) and mainly occurred at protein residues 415, 418, 419, and 420. Retrospective clinical grading was possible in 175 cases. Advanced clinical grading was associated with tooth agenesis, but not with other clinical, radiological, and genetic features. Specific amino acid substitutions of SH3BP2 mutations were not associated with the clinical grading of the disease. 'Wait and see' was the most common therapeutic approach. In a small number of cases, drugs were used in the treatment, with variable response. In conclusion, there is no clear correlation between the genotype and the phenotype of the disease, but additional genomic and gene expression regulation information is necessary for a better understanding of cherubism.

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“…Forty-two studies assessed SH3BP2 mutations 4, . SH3BP2 mutations were detected in 101/108 (93.5%) cases.…”

Section: Sh3bp2 Gene Mutation Analysismentioning

confidence: 99%

mentioning

confidence: 99%

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Cherubism: a systematic literature review of clinical and molecular aspects

Guimarães

Gomes

Gomez

2021

International Journal of Oral and Maxillofacial Surgery

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“…30,31 The SH3BP2 variant found in our patient and her mother leads to an amino acid (cytosine) alteration not only into thymine, but also into both adenine and guanine, all leading to a distinct amino acid exchange (Pro418His and Pro418Arg). [32][33][34] Although each nucleotide translates into a different amino acid, all modifications found on that same spot of exon 9 entail into a phenotype of cherubism.…”

Section: Journal Of Pediatric Geneticsmentioning

confidence: 99%

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

et al. 2020

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Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of SH3BP2 not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).

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“…Skeletal disorders such as osteoporosis and osteopetrosis affect all bones, but odontogenic tumors, cherubism, and hyperparathyroid jaw tumor syndrome commonly affect jaw bones (Machado et al., ; Pepe et al., ). Also, fibrous dysplasia affects multiple bone types, but the jaw lesions of fibrous dysplasia display unique radiological and histological patterns that are different from those of axial and appendicular bones (Akintoye et al., ).…”

Section: Jaw Bones Develop Site‐specific Bone Disordersmentioning

confidence: 99%

The distinctive jaw and alveolar bone regeneration

Akintoye

2018

Oral Diseases

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The skeletal system is structurally and functionally unique. It can be referred to as connective tissue that lost its ability to resist mineralization as mineralization in any other connective tissues is heterotopic. In addition to providing support for muscular attachments, the skeletal system protects nerves and harbors the hematopoietic and mesenchymal stem cells within the bone marrow compartment. However, there are distinct phenotypic and functional differences between the orofacial skeleton compared to axial and appendicular skeleton. How different is the jaw bone from other non-craniofacial bones? Interestingly, developmental, biological, and clinical outcomes point to distinctive features that make the jaw bone unique.

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Clinical and genetic analysis of patients with cherubism

Abstract: 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.

Cited by 19 publications

References 31 publications

Cherubism: a systematic literature review of clinical and molecular aspects

Cherubism: a systematic literature review of clinical and molecular aspects

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

The distinctive jaw and alveolar bone regeneration

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