First report of prenatal biochemical diagnosis of Lowe syndrome

Autor:	S F, Suchy, T, Lin, J A, Horwitz, W E, O'Brien, R L, Nussbaum
Rok vydání:	1998
Předmět:	Male Blotting Western Fibroblasts Amniotic Fluid Phosphoric Monoester Hydrolases Oculocerebrorenal Syndrome Pregnancy Mutation Amniocentesis Humans Female Lymphocytes Chorionic Villi Deoxyribonucleases Type II Site-Specific Cells Cultured
Zdroj:	Prenatal diagnosis. 18(11)
ISSN:	0197-3851
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f6bb3152ad670b0c8592678064822bef https://pubmed.ncbi.nlm.nih.gov/9854717 Zobrazit plný text záznamu Plný text