Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

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.

• Authors: Dominique Lasne, Geneviève Baujat, Tristan Mirault, Joël Lunardi, Françoise Grelac, Marion Egot, Rémi Salomon, Christilla Bachelot-Loza
• Journal: British journal of haematology (Br J Haematol) Vol. 150 Issue 6 Pg. 685-8 (Sep 2010) ISSN: 1365-2141 [Electronic] England
• PMID: 20629659 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• GTPase-Activating Proteins
• rho GTPase-activating protein
• Phosphoric Monoester Hydrolases
• OCRL protein, human

Topics

• Adolescent
• Blood Coagulation Tests
• Child
• Child, Preschool
• GTPase-Activating Proteins (genetics)
• Genetic Predisposition to Disease
• Hemostatic Disorders (etiology, genetics)
• Humans
• Infant
• Male
• Mutation
• Oculocerebrorenal Syndrome (complications, genetics)
• Phosphoric Monoester Hydrolases (genetics)
• Retrospective Studies