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Journal of Bone and Joint Surgery - British Volume, Vol 90-B, Issue 11, 1507-1511.
doi: 10.1302/0301-620X.90B11.20318  
Copyright © 2008 by British Editorial Society of Bone and Joint Surgery
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Perthes’ disease and the search for genetic associations

COLLAGEN MUTATIONS, GAUCHER’S DISEASE AND THROMBOPHILIA

G. Kenet, MD, Clinical Senior Lecturer in Haematology Director1; E. Ezra, MD, Lecturer in Orthopaedics2; S. Wientroub, MD, Professor of Orthopaedics2; D. M. Steinberg, PhD, Professor of Statistics3; N. Rosenberg, PhD, Deputy Director of Thrombosis and Haemostasis Laboratory1; D. Waldman, MD, Senior Haematologist4; and S. Hayek, MD, Lecturer in Orthopaedics2

1 Pediatric Coagulation Service, National Haemophilia Center, Sheba Medical Center, Tel Hashomer 52621, Israel.
2 Department of Paediatric Orthopaedics, Dana Children’s Hospital, Tel Aviv Medical Centre, Sackler Faculty of Medicine, 6 Weizman Street, Tel Aviv 64239, Israel.
3 Department of Statistics and Operations, Research Tel Aviv University, Ramat Aviv, Tel Aviv 61390, Israel.
4 Safra Children’s Hospital, Paediatric Coagulation Service and Pediatric Hematology, Institute Sheba Medical Centre, Tel Hashomer 52621, Israel.

Correspondence should be sent to Dr S. Hayek; e-mail: shayek{at}tasmc.health.gov.il

The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes’ disease is controversial. The clinical and radiological findings of Perthes’ disease may be indistinguishable from those of Gaucher’s disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes’ disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes’ disease.

Genomic DNA of 119 children with radiologically-confirmed Perthes’ disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes’ disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G>A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes’ disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes’ disease. All 199 patients were negative for the studied COL2A1 mutations.

We found no genetic association between Perthes’ disease and either Gaucher’s disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes’ disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear.






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Hip, Knee, Trauma, Upper limb, Foot & Ankle, Paediatrics, Oncology, Spine, Arthroplasty, General