The Lowe Oculocerebrorenal Syndrome (OCRL;McK #309000) is an X-linked disorder characterized by mental retardation, congenital cataracts, renal tubular dysfunction in childhood and progressive renal failure in adulthood. We have determined the complete intron-exon boundary structure of the OCRL gene. It is a 58 kilobase gene consisting of 24 exons, one of which is a 24 basepair alternatively spliced exon. We have developed primers that allow all 23 of the coding exons to be amplified to search for mutations. To date, we have found 9 different mutations, most of which are either premature terminations or small one or two base deletions that cause frame-shifts and premature terminations. This work is continuing in order to expand our database of mutational changes in OCRL.
