Novel Mutations in the Human HPRT Gene |
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| Authors: | Khue Vu Nguyen Robert K. Naviaux Kacie K. Paik William L. Nyhan |
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| Affiliation: | 1. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center , University of California, San Diego, School of Medicine , San Diego, California, USA;2. Department of Pediatrics , University of California, San Diego, School of Medicine, San Diego , La Jolla, California, USA;3. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center , University of California, San Diego, School of Medicine , San Diego, California, USA;4. Department of Pediatrics , University of California, San Diego, School of Medicine, San Diego , La Jolla, California, USA |
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| 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. |
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| Keywords: | Lesch-Nyhan Syndrome HPRT mutation, PCR sequencing |
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