Identification of Novel Mutations in the Human HPRT Gene |
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| Authors: | Khue Vu Nguyen William L. Nyhan |
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| Affiliation: | 1. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California;2. Department of Pediatrics, School of Medicine , University of California, San Diego , La Jolla , California;3. Department of Pediatrics, School of Medicine , University of California, San Diego , La Jolla , California |
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| Abstract: | Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch–Nyhan syndrome (LNS) or Lesch–Nyhan variants (LNVs). We report three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three LNS affected male patients. |
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| Keywords: | Lesch–Nyhan syndrome HPRT mutation PCR sequencing |
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