First trimester diagnosis of lesch-nyhan syndrome: Applications to other disorders of purine metabolism |
| |
| Authors: | J. Timothy Stout Laird G. Jackson C. Thomas Caskey |
| |
| Affiliation: | 1. Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, U.S.A.;2. Division of Medical Genetics, Jefferson University, 1025 Walnut Street, Philadelphia, Pennsylvania 19107, U.S.A.;3. Department of Medicine, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, U.S.A. |
| |
| Abstract: | The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch-Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine-8-[14C] or adenine-8-[14C] is used in diagnosis. We report the diagnosis of Lesch-Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis. In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis. |
| |
| Keywords: | Lesch-Nyhan syndrome Chorionic villus Prenatal diagnosis |
|
|
