A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome
International Urology and Nephrology, 08/03/2012
Peces R et al. – The authors report a 22–year–old male with a severe form of oculocerebrorenal syndrome of Lowe (OCRL) syndrome, diagnosed on the basis of congenital cataracts, severe psychomotor and cognitive deficits, and renal tubular dysfunction without Fanconi syndrome. The patient presented low molecular weight proteinuria, nephrocalcinosis, nephrolithiasis, rickets, and growth retardation and developed progressive renal failure. Genetic analysis showed a novel and de novo deletion of exons 10–13 in the OCRL1 gene.