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

Détails

ID Serval
serval:BIB_920E040FAB0F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
Périodique
Journal of Bone and Mineral Research
Auteur(s)
Zankl  A., Pachman  L., Poznanski  A., Bonafe  L., Wang  F., Shusterman  Y., Fishman  D. A., Superti-Furga  A.
ISSN
0884-0431
Statut éditorial
Publié
Date de publication
02/2007
Peer-reviewed
Oui
Volume
22
Numéro
2
Pages
329-33
Notes
Case Reports Journal Article Research Support, Non-U.S. Gov't --- Old month value: Feb
Résumé
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.
Mots-clé
Adolescent *Alleles Child Humans Matrix Metalloproteinase 2/*genetics *Mutation Osteolysis/*genetics/metabolism/radiography Syndrome
Pubmed
Web of science
Création de la notice
21/01/2008 13:50
Dernière modification de la notice
03/03/2018 19:30
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