The Gene for Cherubism Maps to Chromosome 4p16

Tiziani, Valdenize; Reichenberger, Ernst; Buzzo, Celso Luiz; Niazi, Sadia; Fukai, Naomi; Stiller, Michael; Peters, Hartmut; Salzano, Francisco M.; Amaral, Cassio Menezes Raposo do; Olsen, Bjørn R.

doi:10.1086/302456

Cited by 132 publications

(89 citation statements)

References 30 publications

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“…18 The biochemical bone markers, such as serum calcium, phosphorus and alkaline phosphatase, have been found within the normal ranges for the respective age. 9,19,20 This was also so in our case.…”

Section: -13supporting

confidence: 81%

“…13,14 In addition to premature exfoliation of deciduous and permanent teeth in the involved areas, agenesia, malformation, ectopic and unerupted teeth could also occur. 4,9 In the present case, we verified alterations of the posterior teeth in both sides of the mandible. Root dilaceration in tooth 47 probably happened owing to its compression and displacement against cortical bone, which is a well known resistant bone zone.…”

Section: -13supporting

confidence: 73%

“…4,9,14 The most aggressive lesions may affect deglutition, swallowing, breathing and speech, 15 but that was not observed in the present case report. According to Katz and Underhill,4 this pathological entity may also develop adenopathy in the most developed stage.…”

Section: -13mentioning

confidence: 53%

“…8 Most cases of cherubism are familial and inherited in an autosomal dominant pattern with high penetrance. 9,10 According to the evaluation of the patient's clinical history, no case of cherubism was observed spanning four generations. Researchers have described seven mutations in the gene encoding SH3-binding protein SH3BP2 on chromosome 4p16.3 that cause cherubism.…”

Section: Discussionmentioning

confidence: 99%

“…Researchers have described seven mutations in the gene encoding SH3-binding protein SH3BP2 on chromosome 4p16.3 that cause cherubism. 9,10 The penetrance is approximately 80% (100% in males, 50% to 70% in females), although the precise estimation will depend on Cherubism has been associated with other genetic disorders, including a number of cases of both Noonanlike syndrome (short stature, low-normal intelligence, ocular hypertelorism, prominent posterior angulated ears, giant-cell lesions of the bones, joints, and soft tissue, pectus excavatum, and pulmonary stenosis) and Ramon syndrome (short stature, mental retardation, epilepsy, gingival fibromatosis and hyperthricosis), but the incidence for this connection with other diseases requires more investigations.…”

Section: Discussionmentioning

confidence: 99%

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Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features

Gomes¹,

Destro²,

Banzi³

et al. 2005

Dentomaxillofacial Radiology

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Cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and at the tuberosity areas of the maxilla that leads to prominence of the lower face and an appearance reminiscent of the cherub's portrayal in Renaissance art. This disease has an autosomal dominant hereditary characteristic. The purpose of this report is to analyse laboratory tests, clinicopathological and radiographic features of cherubism and its intraoral manifestations in a patient during 4-years of follow-up, correlating the features observed in this case with those of the literature. Also discussed is the atypical and aggressive behaviour of this case during puberty. No known cases of cherubism involving her biological father, mother, two younger brothers or other relatives were found during the review of the patient's family medical history. The menarche of this female patient occurred when she was 11 years old.At extraoral evaluation, the expression and colour of the face were normal and the eyes did not reveal any abnormalities. At intraoral clinical examination, the absence of the lower right first and second molars and the lower left second molar with bilateral eversion of the vestibule were observed. The mucosa of the right side showed a rigid consistency, whiteness and marks made by the occlusal surfaces of antagonist teeth, but the left side displayed a normal aspect.For radiological study, lateral and panoramic radiographs and computed tomography (CT) were obtained. The images showed bilateral multilocular lesions located in the body, angle, ramus and coronoid process of mandible, not affecting the condyles. In the right side, with the absence of the lower first molar, the second molar was found dislocated to the base of the mandibular bone and the third molar was directed towards the lingual cortex and mandibular angle. Their roots were incompletely formed. In the left side, the lower second molar was located below the first molar, which presented severe resorption of the distal root. The lower third molar was floating within the lesion. The maxilla showed absence of the disease and absence of the first left and right molars (Figure 2)

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Section: -13supporting

confidence: 81%

Section: -13supporting

confidence: 73%

Section: -13mentioning

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features

Gomes¹,

Destro²,

Banzi³

et al. 2005

Dentomaxillofacial Radiology

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Clinical Genetics of Familial Keloids

Marneros

Norris²,

Olsen³

et al. 2001

Arch Dermatol

217

159

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Craniosynostosis in cherubism

et al. 2000

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Cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16. Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism.

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The Gene for Cherubism Maps to Chromosome 4p16

Cited by 132 publications

References 30 publications

Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features

Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features

Clinical Genetics of Familial Keloids

Craniosynostosis in cherubism

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