title: First report of prenatal biochemical diagnosis of Lowe syndrome.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder with a severe phenotype characterized by congenital cataracts, renal tubular dysfunction and neurological deficits. The gene has been characterized and mutations have been identified in patients. Owing to the allelic heterogeneity exhibited by this gene, prenatal diagnosis by molecular analysis is limited to families in which the mutation is already known or in which linkage is informative. A more generally applicable 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)P2 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.
authors.affiliation: Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. suchy@nhgri.nih.gov
authors.forename: S F
authors.initials: SF
authors.lastname: Suchy
authors.forename: T
authors.initials: T
authors.lastname: Lin
authors.forename: J A
authors.initials: JA
authors.lastname: Horwitz
authors.forename: W E
authors.initials: WE
authors.lastname: O'Brien
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology*; D015153:Blotting, Western; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis*; D010744:Phosphoric Monoester Hydrolases / Q000032:analysis* / Q000235:genetics; D011247:Pregnancy; D000099182:Phosphoinositide 5-Phosphatases
chemical_list: D015252:Deoxyribonucleases, Type II Site-Specific; D010744:Phosphoric Monoester Hydrolases; D000099182:Phosphoinositide 5-Phosphatases; C055927:endodeoxyribonuclease MseI; C032229:GANTC-specific type II deoxyribonucleases