Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.

Steven A. Lietman, Natasha Kalinchinko, Xichao Deng, Ronald Kohanski, Michael A. Levine

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)717-718
Number of pages2
JournalHuman Mutation
Volume27
Issue number7
Publication statusPublished - Jul 2006
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Lietman, S. A., Kalinchinko, N., Deng, X., Kohanski, R., & Levine, M. A. (2006). Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Human Mutation, 27(7), 717-718.