The Gene for Cherubism Maps to Chromosome 4p16.3

Mangion, Jonathan; Rahman, Nazneen; Edkins, Sarah; Barfoot, Rita; Nguyen, Trang; Sigurðsson, Ásgeir; Townend, John; FitzPatrick, David R.; Flanagan, Adrienne M.; Stratton, Michael R.

doi:10.1086/302454

Cited by 144 publications

(88 citation statements)

References 33 publications

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“…Small vessels may show perivascular collagen cuffing. Osteoid and bone tissue formation were often seen at the periphery of the lesion tissue, results that have also been observed by Katz and Underhill, 15 Hitomi et al, 22 and Mangion et al 11 Southgate and coworkers 3 established that multinucleated cells in the cherubism are osteoclasts since they synthesized tartrateresistant acid phosphatase, expressed vitronectin receptors, promoted bone resorption at culture and the multinucleated giant cells were inhibited by calcitonin in situ. Treatment of cherubism has not been standardized, making it difficult to indicate a treatment protocol.…”

Section: -13supporting

confidence: 57%

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: 57%

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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“…SOX9 has been proposed to be necessary for chondrocyte survival and hypertrophy to delay terminal maturation (Cowan et al 2003, Hattori et al 2010. Furthermore, SOX9 can inhibit the expression of RUNX2, a runt-domain transcription factor, and induce the degradation of RUNX2 in chondrocytes (Mangion et al 1999, Amizuka et al 2000. RUNX2 plays a pivotal role in the promotion of chondrocyte hypertrophy.…”

Section: Introduction On Growth Plate Developmentmentioning

confidence: 99%

RECENT RESEARCH ON THE GROWTH PLATE: Advances in fibroblast growth factor signaling in growth plate development and disorders

Xie

Zhou

Chen

et al. 2014

Journal of Molecular Endocrinology

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Skeletons are formed through two distinct developmental actions, intramembranous ossification and endochondral ossification. During embryonic development, most bone is formed by endochondral ossification. The growth plate is the developmental center for endochondral ossification. Multiple signaling pathways participate in the regulation of endochondral ossification. Fibroblast growth factor (FGF)/FGF receptor (FGFR) signaling has been found to play a vital role in the development and maintenance of growth plates. Missense mutations in FGFs and FGFRs can cause multiple genetic skeletal diseases with disordered endochondral ossification. Clarifying the molecular mechanisms of FGFs/FGFRs signaling in skeletal development and genetic skeletal diseases will have implications for the development of therapies for FGF-signaling-related skeletal dysplasias and growth plate injuries. In this review, we summarize the recent advances in elucidating the role of FGFs/FGFRs signaling in growth plate development, genetic skeletal disorders, and the promising therapies for those genetic skeletal diseases resulting from FGFs/FGFRs dysfunction. Finally, we also examine the potential important research in this field in the future.

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“…[7][8][9][10] Now, both hereditary and sporadic cases have been reported and recent genetic studies have shown it to be a separate entity at the molecular level. 11,12 The gene for cherubism has been mapped to seven mutations in the gene encoding SH3-binding protein SH3BP2 on chromosome 4p16.3 that cause cherubism. 10,11 The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, 13,14 Ramon syndrome, 15 fragile X syndrome, mental and physical deformities may be seen.…”

Section: Discussionmentioning

confidence: 99%

“…11,12 The gene for cherubism has been mapped to seven mutations in the gene encoding SH3-binding protein SH3BP2 on chromosome 4p16.3 that cause cherubism. 10,11 The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, 13,14 Ramon syndrome, 15 fragile X syndrome, mental and physical deformities may be seen. 16 Grading of cherubism based on the location of the jaw lesions have been described by Seward and Hankey 17 as follows:…”

Section: Discussionmentioning

confidence: 99%

Ramon's Syndrome: A Rare Entity

Lnu¹,

Peter²,

Nampoothiri³

et al. 2010

World Journal of Dentistry

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Introduction Ramon et al in 1967 described a condition, which included mental retardation, fibrous dysplasia of the maxilla and stunted growth. De Pino et al described a Brazilian family of four who had the same features as that of Ramon's syndrome in association with juvenile arthritis. Cherubism was first described in 1933 by Jones as ‘familial multilocular cystic lesion of the jaws’, a rare benign fibroosseous disease of the jaws, which is transmitted as an autosomal dominant trait. Affected children usually present before five years of age with painless progressive swelling of the cheeks, frequently associated with dental malformations. It progresses until puberty, and shows partial or complete spontaneous involution in adulthood; therefore, management is mostly conservative. The condition was initially characterized as familial, particularly as a form of craniofacial fibrous dysplasia. The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, Ramon syndrome, and Fragile X syndrome, mental and physical deformities may be seen. Case Report This is a case report of a 12-year-old boy who reported with a massive painless bilateral swelling of the face, which has been increasing since the age of 2 years. The patient had multiple unerupted teeth, gingival hyperplasia, hearing loss and mental retardation. A detailed case report, including the histopathology, radiographic features (extraoral, CT and MDCT), and management of the case will be discussed in detail.

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The Gene for Cherubism Maps to Chromosome 4p16.3

Cited by 144 publications

References 33 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

RECENT RESEARCH ON THE GROWTH PLATE: Advances in fibroblast growth factor signaling in growth plate development and disorders

Ramon's Syndrome: A Rare Entity

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