Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation

Gene. 2012 Dec 15;511(2):306-7. doi: 10.1016/j.gene.2012.09.121. Epub 2012 Oct 7.

Abstract

Lesch-Nyhan disease (LND) is caused by lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. Mutations in HPRT1 gene show variability in type and location within the gene, and in certain patients the HPRT coding sequence is normal and the molecular defect cannot be found. These patients presented a decreased HPRT1 expression of unknown cause. This is the first report of a carrier and prenatal diagnosis of LND due to a defect in HPRT gene expression regulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Carrier Screening*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Infant
  • Lesch-Nyhan Syndrome / diagnosis*
  • Lesch-Nyhan Syndrome / genetics*
  • Mutation
  • Prenatal Diagnosis*
  • RNA, Messenger / genetics
  • Real-Time Polymerase Chain Reaction

Substances

  • RNA, Messenger
  • Hypoxanthine Phosphoribosyltransferase