Häufigkeit der thrombophilen Faktor-V-Leiden- und Prothrombin-G20210A-Mutation bei Morbus Perthes - Eine Pilotstudie

Schmitz, A.; Pförtner, J.; Protzel, Ana; Harbrecht, Ursula

doi:10.1055/s-2001-15046

Cited by 12 publications

(9 citation statements)

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“…[23][24][25][26][27][28] While several studies suggest that Leiden's V factor is the potential causative factor for Legg-Calvé-Perthes disease 1,2,12-14 some studies do not show any correlation between this disease and thrombophilia. [16][17][18][19][20] The results reported by Hayek et al 21 do not imply thrombophilia in the pathogenesis of Perthes disease (4.83% in patients, 10% in controls). Similarly, the study by Franco et al 15 does not corroborate the association between Leiden's V factor and LCP (odds ratio: 1.36; 95% confidence interval: 0.32-5.84).…”

Section: Discussionsupporting

confidence: 50%

Fator V de Leiden na doença de Legg-Calvé-Perthes

et al. 2009

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Acta Ortop Bras. 2009; 17(2):40-2 patients with Legg-Calvé-Perthes disease than in controls (30% vs. 1,87%). The odds ratio for the development of Legg-Calvé-Perthes disease in the presence of the Leiden's V-factor mutation was 22,5 (p<0,05; confidence interval: 5,68-89.07). These data suggest the Leiden's V-factor as an inherited risk factor for hypercoagulability associated with the development of Legg-Calvé-Perthes disease.

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Section: Discussionsupporting

confidence: 50%

Fator V de Leiden na doença de Legg-Calvé-Perthes

et al. 2009

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“…1,5,6,8,12 On the other hand, several authors found no relationship between Perthes' disease and thrombophilic disorders. [12][13][14][15][16]32,33 Hayek et al 13 studied 62 patients diagnosed with Perthes' disease and found no evidence to support a role of thrombophilia in the pathogenesis and evolution of the disease. Hresko et al 14 analyzed the value of screening for inherited thrombophilia in patients with Legg-Perthes disease and ruled it out.…”

Section: Discussionmentioning

confidence: 95%

“…[9][10][11] Several groups have investigated these hereditary factors of thrombophilia to establish whether they are involved in the development of Perthes' disease. 1,4,6,8,[12][13][14][15][16] We wanted to determine whether children with Perthes' disease have an increased incidence of congenital thrombophilia, so we evaluated the main hereditary factors that lead to venous thrombosis: factor V Leiden, G20210A prothrombin polymorphism, and C677T polymorphism of MTHFR.…”

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confidence: 99%

Legg-Perthes Disease and Heritable Thrombophilia

López-Franco¹,

González-Morán²,

Lucas³

et al. 2005

Journal of Pediatric Orthopaedics

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The etiology of Perthes' disease is unclear. Recent reports have suggested that inheritable thrombophilic disorders may be one of its pathogenetic causes. The G20210A prothrombin gene, factor V Leiden, and MTHFR C677T mutations have been identified as predisposing genetic factors for thrombosis. Ninety children diagnosed with Perthes' disease were studied. A family history of thrombosis and any other personal thromboembolic events were researched. PCR and endonuclease digestion were used to analyze factor V Leiden, prothrombin G20210A, and MTHFR C677T. Two hundred healthy donors were included as a control group. No patient had a family or personal history of early thrombotic events. Four children with Perthes' disease (4.4%) were heterozygous for G20210A polymorphism compared with controls (odds ratio: 2.07; 95% confidence interval: 0.40-8.46). No association between factor V Leiden and Perthes' disease was observed. Three patients (3.33%) were heterozygous for factor V Leiden (odds ratio: 1.36; 95% confidence interval: 0.32-5.84). The prevalence of different genotypes of C677T MTHFR did not show statistical differences compared with controls. Eleven patients were homozygous for this polymorphism (odds ratio: 1.02; 95% confidence interval: 0.42-2.44). This study does not support the screening of this group of polymorphism in patients with Perthes' disease.

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“…Vosmaer et al [8] report thrombotic component in the etiology of LCPD. Schmitz et al [9] study did not find an increased rate of factor V or prothrombin mutations in children with en with LCPD compared to the natural incidence. Kenet et al [10] found no genetic association between LCPD and increased genetic thrombophilia among patients compared with the control group.…”

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confidence: 81%

Mutation of COL2A1 in a Chinese Family with Presentations of Legg-Calvé-Perthes Disease

Yan

Wang²,

Zhang

2020

Preprint

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Background: The aim of this study was to identify genetic factors and chromosomal regions contributing to osteonecrosis of the femoral head (ONFH) in a Chinese family with presentations of Legg-Calvé-Perthes Disease (LCDP). Methods: In this study, we performed whole exon sequencing of a Chinese family with LCPD for mutation detection. Ten members had ONFH in twenty-seven family members in four generations family, 5 unaffected members of the studied family and 5 normal peoples as control were underwent whole exome sequencing for mutation detection. Structural modeling test was applied to analyze the potential structural changes caused by the missense substitution. Results: In this Chinese family affected by LCPD, the mutation (c.3508 G>A, p. Gly1170Ser) in exon 50 of COL2A1 in the Gly–X–Y domain was present in 10 patients but absent in 5 unaffected members of the studied family and in 5 control chromosomes from unaffected individuals of matched geographical ancestry. The COL2A1 gene mutation was further validated by Sanger sequencing, confirmed that were heterozygous for the mutation. Then, we identified the p.Gly1170Ser mutation in exon 50 of COL2A1 in a Chinese family with LCPD. Conclusions: This study maps the mutation of mutation (c.3508 G>A, p. Gly1170Ser) in exon 50 of COL2A1 in the Gly–X–Y domain in a Chinese family of LCPD, which causes osteonecrosis of femoral head.

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Häufigkeit der thrombophilen Faktor-V-Leiden- und Prothrombin-G20210A-Mutation bei Morbus Perthes - Eine Pilotstudie

Cited by 12 publications

References 0 publications

Fator V de Leiden na doença de Legg-Calvé-Perthes

Fator V de Leiden na doença de Legg-Calvé-Perthes

Legg-Perthes Disease and Heritable Thrombophilia

Mutation of COL2A1 in a Chinese Family with Presentations of Legg-Calvé-Perthes Disease

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