Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome

Zankl, Andreas, Pachman, Lauren, Poznanski, Andrew, Bonafé, Luisa, Wang, Fengqiang, Shusterman, Yelena, Fishman, David A. and Superti-Furga, Andrea (2007) Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. Journal of Bone and Mineral Research, 22 2: 329-333. doi:10.1359/JBMR.061013


Author Zankl, Andreas
Pachman, Lauren
Poznanski, Andrew
Bonafé, Luisa
Wang, Fengqiang
Shusterman, Yelena
Fishman, David A.
Superti-Furga, Andrea
Title Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
Journal name Journal of Bone and Mineral Research   Check publisher's open access policy
ISSN 0884-0431
1523-4681
Publication date 2007-02
Sub-type Article (original research)
DOI 10.1359/JBMR.061013
Volume 22
Issue 2
Start page 329
End page 333
Total pages 5
Place of publication Washington, DC. United States
Publisher American Society for Bone and Mineral Research
Language eng
Subject 1116 Medical Physiology
Formatted abstract
Torg syndrome is a multicentric osteolysis syndrome of unknown etiology. We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. Our findings suggest that Torg, NAO, and Winchester syndrome are allelic disorders.

Introduction:
Torg, nodulosis-arthropathy-osteolysis (NAO), and Winchester syndrome are a group of autosomal recessive osteolysis syndromes with marked clinical and radiological overlap. It has been suggested that the three conditions are causally related, but molecular evidence for this assumption has been lacking. Recently, mutations in the matrix metalloproteinase 2 gene (MMP2) have been reported in patients with NAO and Winchester syndrome.

Materials and Methods:
We sequenced the MMP2 gene in a patient with clinical and radiographic findings of Torg syndrome. MMP2 activity was measured with gelatin zymography.

Results
:
Two mutations in the MMP2 gene were identified in this patient. Gelatin zymography indicated complete loss of MMP2 activity.

Conclusions
:
Torg, NAO, and Winchester syndrome are allelic disorders. The name Torg-Winchester syndrome is suggested as a common denominator for this group of disorders.

Keyword NAO syndrome
Torg syndrome
Winchester syndrome
Allelic disorders
Multicentric
Osteolysis
Syndrome
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Public Health Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 28 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 31 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Thu, 24 Dec 2009, 15:22:34 EST by Maria Campbell on behalf of Faculty Of Health Sciences