FIRST REPORT OF PRENATAL BIOCHEMICAL-DIAGNOSIS OF LOWE-SYNDROME

The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disor der with a severe phenotype characterized by congenital cataracts, ren al tubular dysfunction and neurological deficits. The gene has been ch aracterized and mutations have been identified in patients. Owing to t he allelic heterogeneity exhibited by this gene, prenatal diagnosis by molecular analysis is limited to families in which the mutation is al ready known or in which linkage is informative. A more generally appli cable diagnostic test would be valuable for families at risk for Lowe syndrome. Since ocrl1 is now known to encode a phosphatidylinositol 4, 5-bisphosphate 5-phosphatase (Ptdlns(4,5)P-2 phosphatase), we assessed whether biochemical testing could be used for prenatal diagnosis. We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes. (C) 1998 John Wiley & Sons, Ltd.