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Lowe syndrome

What are the causes?

The cause of Lowe syndrome has been identified as mutation of the OCRL1 gene on the X chromosome. Recently, mutations in the same gene have also been found to cause a different syndrome, Dent disease. Patients with Dent disease have similar kidney problems to patients with Lowe syndrome but do not have the other features found in Lowe syndrome. The exact relationship between Lowe syndrome and Dent disease remains to be worked out.

View What are the symptoms? What are the symptoms?  |  How is it diagnosed? View How is it diagnosed?

Medical text written October 2005 by Contact a Family. Approved October 2005 by Dr A Norden, Consultant in Chemical Pathology, Addenbrooke's Hospital, Cambridge, UK.

 

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