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

Details

Serval ID
serval:BIB_920E040FAB0F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
Journal
Journal of Bone and Mineral Research
Author(s)
Zankl  A., Pachman  L., Poznanski  A., Bonafe  L., Wang  F., Shusterman  Y., Fishman  D. A., Superti-Furga  A.
ISSN
0884-0431
Publication state
Published
Issued date
02/2007
Peer-reviewed
Oui
Volume
22
Number
2
Pages
329-33
Notes
Case Reports Journal Article Research Support, Non-U.S. Gov't --- Old month value: Feb
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.
Keywords
Adolescent *Alleles Child Humans Matrix Metalloproteinase 2/*genetics *Mutation Osteolysis/*genetics/metabolism/radiography Syndrome
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 14:55
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