The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

Nature. 1992 Jul 16;358(6383):239-42. doi: 10.1038/358239a0.


Lowe's oculocerebrorenal syndrome (OCRL) is a human X-linked developmental disorder of unknown pathogenesis and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage and by finding de novo X; autosome translocations at Xq25-q26 in two unrelated females with OCRL. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Gene Library
  • Genetic Linkage
  • Humans
  • Inositol Polyphosphate 5-Phosphatases
  • Male
  • Molecular Sequence Data
  • Oculocerebrorenal Syndrome / genetics*
  • Phosphoric Monoester Hydrolases / genetics*
  • Proteins / genetics*
  • Sequence Homology, Nucleic Acid
  • Translocation, Genetic
  • X Chromosome*


  • Proteins
  • DNA
  • Phosphoric Monoester Hydrolases
  • OCRL protein, human
  • Inositol Polyphosphate 5-Phosphatases