Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1266-71. doi: 10.1080/15257770.2011.608396.

Abstract

Lesch-Nyhan syndrome is caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT) encoded by HPRT1. About 20% of patients have a deletion of HPRT1 and large deletions of HPRT1 are not always fully characterized at the molecular level. Here, we report on a case of Lesch-Nyhan syndrome with a 33-kb deletion involving exon 1 of HPRT1. This novel mutation is caused by a nonhomologous recombination between different classes of interspersed repetitive DNA.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • Chromosome Breakpoints
  • Gene Deletion*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Lesch-Nyhan Syndrome / enzymology*
  • Lesch-Nyhan Syndrome / genetics*
  • Male
  • Molecular Sequence Data

Substances

  • Hypoxanthine Phosphoribosyltransferase