Journal
HUMAN MUTATION
Volume 27, Issue 7, Pages -Publisher
WILEY
DOI: 10.1002/humu.9433
Keywords
SH3BP2; cherubism; NFAT; osteoclastogenesis; giant cell tumor; bone; bone resorption
Categories
Funding
- NIAMS [K08 AR047661]
- OREF career development award
- NIAMS Core Center Grant [P30 AR-050953]
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We describe a novel missense mutation (Aspartic acid to Asparagine, p.D419N (g.1371G>A, c.1255G>A) within exon 9 of SH3BP2 in a patient with cherubism, an autosomal dominant syndrome characterized by excessive osteoclastic bone resorption of the jaw. Two siblings and the father were carriers but lacked phenotypic features. Transient expression of p. D419N (c.1255G>A), as well as three previously described exon 9 mutations from cherubism patients (p.R415Q (c.1244G>A), p.D420E (c.1259G>A), and p.P418R (c.1253C>G)) increased activity of NFAT (nuclear factor of activated T-cells), an osteoclastogenic mediator, indicating that cherubism results from gain of function mutations in SH3BP2. Published 2006 Wiley-Liss, Inc.
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