Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members

Nucleosides Nucleotides Nucleic Acids. 2012;31(8):616-29. doi: 10.1080/15257770.2012.714028.

Abstract

Inherited mutations of hypoxanthine guanine phosphoribosyltransferase (HPRT) give rise to Lesch-Nyhan syndrome (LNS) or variants (LNV). We report molecular insights from real-time RT-PCR for HPRT mRNA quantification into the mechanism by which a single mutation located in exon 7 of the HPRT gene: c.500G>T, p.R167M, led to different clinical phenotypes from three male LNV-affected patients in the same family manifesting parallel differences in enzymatic activities. This approach can be applied for understanding genotype-phenotype correlations for other human genetic diseases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Child, Preschool
  • Family
  • Gene Expression
  • Genetic Association Studies
  • Genotype
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Hypoxanthine Phosphoribosyltransferase / metabolism
  • Lesch-Nyhan Syndrome / genetics*
  • Lesch-Nyhan Syndrome / metabolism
  • Male
  • Mutation
  • Open Reading Frames
  • Pedigree
  • Phenotype
  • RNA, Messenger / analysis
  • Real-Time Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • RNA, Messenger
  • Hypoxanthine Phosphoribosyltransferase