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The role of SH3BP2 in the pathophysiology of cherubism

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Title: The role of SH3BP2 in the pathophysiology of cherubism
Authors: Reichenberger Ernst J, Levine Michael A, Olsen Bjorn R, Papadaki Maria E, Lietman Steven A
Source: Orphanet Journal of Rare Diseases, Vol 7, Iss Suppl 1, p S5 (2012)
Publisher Information: BMC, 2012.
Publication Year: 2012
Collection: LCC:Medicine
Subject Terms: Medicine
More Details: Abstract Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1750-1172
Relation: http://www.ojrd.com/content/7/S1/S5; https://doaj.org/toc/1750-1172
DOI: 10.1186/1750-1172-7-S1-S5
Access URL: https://doaj.org/article/0db9658b3a7b412d9651f3d75f72b4bd
Accession Number: edsdoj.0db9658b3a7b412d9651f3d75f72b4bd
Database: Directory of Open Access Journals
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  Data: Abstract Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans.
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