Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation
SA Lietman, N Kalinchinko, X Deng… - Human …, 2006 - Wiley Online Library
SA Lietman, N Kalinchinko, X Deng, R Kohanski, MA Levine
Human mutation, 2006•Wiley Online LibraryWe 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 …
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 …
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. Published 2006 Wiley‐Liss, Inc.
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