NOVEL MUTATIONS IN THE HUMAN HPRT GENE

作者：Khue Vu Nguyen^*; Naviaux Robert K; Paik Kacie K; Nyhan William L

来源：Nucleosides Nucleotides & Nucleic Acids, 2011, 30(6): 440-445.

DOI：10.1080/15257770.2011.588187

• Lesch-Nyhan Syndrome
• HPRT
• mutation
• PCR
• sequencing

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.

• 出版日期2011