Abstract
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate (PIP2P) 5-phosphatase, is responsible for the phenotypic characteristics of the disease. We report a 22-year-old male with a severe form of 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.
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References
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Acknowledgments
We thank all family members for their invaluable contribution to this study. We also thank Drs AM van den Ouweland and D Dooijes (Erasmus Medical Centre, Rotterdam, the Netherlands). This work was supported in part by grants Programa Intensificación Actividad Investigadora (IdiPAZ and Agencia Laín-Entralgo/CM) to R.P.
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Peces, R., Peces, C., de Sousa, E. et al. A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome. Int Urol Nephrol 45, 1767–1771 (2013). https://doi.org/10.1007/s11255-012-0246-5
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DOI: https://doi.org/10.1007/s11255-012-0246-5