The results of carrier and prenatal diagnosis for Lesch-Nyhan syndrome by carrier testing of 83 women and prenatal analysis of 26 pregnancies are reported from the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Mutation detection and linkage analysis were used for probands and their families and biochemical measurement of HPRT enzyme activity for at-risk pregnancies. Mutations in the HPRT gene of affected males were detected in 100% cases. Forty five (56%) at-risk women were found not to carry their family’s HPRT gene mutation. [1]

COMMENT. Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation, self-mutilatory behavior, and a deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT). Molecular diagnostic studies of affected males and carrier testing prior to pregnancy have been shown to demonstrate genetic risks and unnecessary prenatal tests may be avoided