Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

@article{Lin1997SpectrumOM,
  title={Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.},
  author={Terry Y. Lin and Bonnie M. Orrison and Ann M Leahey and Sharon F. Suchy and David J. Bernard and Richard Alan Lewis and Robert L Nussbaum},
  journal={American journal of human genetics},
  year={1997},
  volume={60 6},
  pages={
          1384-8
        }
}
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, mental retardation, and renal Fanconi syndrome. The OCRL1 gene, which, when mutated, is responsible for OCRL, encodes a 105-kD Golgi protein with phosphatidylinositol (4,5)bisphosphate (PtdIn[4,5]P2) 5-phosphatase activity. We have examined the OCRL1 gene in 12 independent patients with OCRL and have found 11 different mutations. Six were nonsense mutations, and one a deletion of one… CONTINUE READING

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