Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease |
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| Authors: | Khue Vu Nguyen Robert K Naviaux William L Nyhan |
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| Institution: | 1. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, CA, USA;2. Department of Pediatrics, School of Medicine, University of California, San Diego, CA, USA;3. Department of Pathology, School of Medicine, University of California, San Diego, CA, USA;4. Department of Pediatrics, School of Medicine, University of California, San Diego, CA, USA |
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| Abstract: | Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling. |
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| Keywords: | Lesch-Nyhan disease HPRT1 gene HGprt enzyme mutation HND epigenetics epistasis amyloid precursor protein |
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