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Related Experiment Videos

Dent Disease with mutations in OCRL1.

Richard R Hoopes1, Antony E Shrimpton, Stephen J Knohl

  • 1Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.

American Journal of Human Genetics
|January 1, 2005
PubMed
Summary
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Mutations in the OCRL1 gene cause Dent disease, a kidney disorder, in some patients. This finding reveals genetic heterogeneity in Dent disease and broader variability in Lowe syndrome phenotypes.

Area of Science:

  • Genetics
  • Molecular Biology
  • Nephrology

Background:

  • Dent disease is an X-linked renal proximal tubulopathy linked to CLCN5 gene mutations.
  • Lowe syndrome, a multisystem disorder, involves renal tubulopathy, cataracts, and intellectual disability, linked to OCRL1 gene mutations.
  • Genetic heterogeneity was suspected in Dent disease, but no causative genes beyond CLCN5 were identified.

Purpose of the Study:

  • To investigate genetic heterogeneity in Dent disease.
  • To identify the causative gene in families with Dent disease but without CLCN5 mutations.
  • To delineate the phenotypic spectrum associated with OCRL1 gene mutations.

Main Methods:

  • Studied male probands from 13 families meeting strict Dent disease criteria without CLCN5 mutations.

Related Experiment Videos

  • Performed linkage analysis to localize the gene to Xq25-Xq27.1 in one family.
  • Sequenced candidate genes, including OCRL1, and analyzed PIP(2) 5-phosphatase activity and protein expression in fibroblasts.

    • Main Results:

    • Identified OCRL1 mutations in 5 out of 13 families.
    • Observed reduced PIP(2) 5-phosphatase activity and protein expression in affected individuals.
    • Found isolated renal phenotype in OCRL1 mutation carriers, lacking typical Lowe syndrome features like cataracts and acidosis, with variable intellectual and developmental outcomes.

    Conclusions:

    • Mutations in OCRL1 can cause an isolated renal phenotype resembling Dent disease.
    • This confirms genetic heterogeneity in Dent disease.
    • Phenotypic heterogeneity in Lowe syndrome is broader than previously recognized, necessitating revised diagnostic criteria for OCRL1-related disorders.