Novel mutations in the human HPRT gene

Nucleosides Nucleotides Nucleic Acids. 2011 Jun;30(6):440-5. doi: 10.1080/15257770.2011.588187.

Abstract

Inherited mutation of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), gives rise to Lesch-Nyhan Syndrome (LNS) or HPRT-related gout. Here, we report five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with LNS: exon 2: c.133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon 7: c.530A > T, p.177D > V; and c.318 + 1G > C: IVS3 + 1G > C splice site mutation.

MeSH terms

  • Base Sequence
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Lesch-Nyhan Syndrome / enzymology*
  • Lesch-Nyhan Syndrome / genetics*
  • Male
  • Mutation*
  • Mutation, Missense

Substances

  • Hypoxanthine Phosphoribosyltransferase