Abstract : Lowe syndrome (LS) is a rare X-linked disorder caused by mutations in the oculocerebrorenal gene (OCRL), encoding OCRL, a phosphatidylinositol 5-phosphatase with a RhoGAP domain. An abnormal rate of haemorrhagic events was found in a retrospective clinical survey. Herein, we report the results of exploration of haemostasis in six LS patients. All patients had normal coagulation tests but prolonged closure times (CTs) in the PFA-100 system. Healthy donors' blood samples incubated with a RhoA kinase inhibitor had prolonged CTs. This suggests that an aberrant RhoA pathway in platelets contributes to CT prolongation and primary haemostasis disorders in LS.
http://www.hal.inserm.fr/inserm-00588304
Contributeur : Nathalie Roux-Buisson
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Soumis le : mercredi 13 juillet 2011 - 13:17:03
Dernière modification le : mercredi 29 août 2018 - 01:10:38
Dominique Lasne, Geneviève Baujat, Tristan Mirault, Joël Lunardi, Françoise Grelac, et al.. Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.. British Journal of Haematology, Wiley, 2010, 150 (6), pp.685-8. 〈10.1111/j.1365-2141.2010.08304.x〉. 〈inserm-00588304〉
