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

British Journal of Haematology
Dominique LasneChristilla Bachelot-Loza

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.

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Citations

Oct 6, 2011·The EMBO Journal·Mariella VicinanzaMaria Antonietta De Matteis
Mar 25, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Arend Bökenkamp, Michael Ludwig
Jun 7, 2013·Communicative & Integrative Biology·Kayalvizhi MadhivananR Claudio Aguilar
Dec 7, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Florian ReckerMichael Ludwig
Jul 4, 2017·Nature Reviews. Nephrology·Maria Antonietta De MatteisOlivier Devuyst
Apr 30, 2014·Korean journal of pediatrics·Hyun-Kyung KimHan-Wook Yoo
May 12, 2020·Human Molecular Genetics·Kayalvizhi MadhivananR Claudio Aguilar

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