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
StatePublished - Jul 2006
Externally publishedYes

Fingerprint

Cherubism
NFATC Transcription Factors
Mutation
Exons
Asparagine
Missense Mutation
Bone Resorption
Jaw
Aspartic Acid
Fathers
Siblings

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.

Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. / Lietman, Steven A.; Kalinchinko, Natasha; Deng, Xichao; Kohanski, Ronald; Levine, Michael A.

In: Human Mutation, Vol. 27, No. 7, 07.2006, p. 717-718.

Research output: Contribution to journalArticle

Lietman, SA, Kalinchinko, N, Deng, X, Kohanski, R & Levine, MA 2006, 'Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.', Human Mutation, vol. 27, no. 7, pp. 717-718.
Lietman, Steven A. ; Kalinchinko, Natasha ; Deng, Xichao ; Kohanski, Ronald ; Levine, Michael A. / Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. In: Human Mutation. 2006 ; Vol. 27, No. 7. pp. 717-718.
@article{35edd2fe6e7c4c6b9841c9b96615dc47,
title = "Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.",
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.",
author = "Lietman, {Steven A.} and Natasha Kalinchinko and Xichao Deng and Ronald Kohanski and Levine, {Michael A.}",
year = "2006",
month = "7",
language = "English (US)",
volume = "27",
pages = "717--718",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "7",

}

TY - JOUR

T1 - Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.

AU - Lietman, Steven A.

AU - Kalinchinko, Natasha

AU - Deng, Xichao

AU - Kohanski, Ronald

AU - Levine, Michael A.

PY - 2006/7

Y1 - 2006/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=33746677024&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33746677024&partnerID=8YFLogxK

M3 - Article

VL - 27

SP - 717

EP - 718

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 7

ER -