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Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome
Authors:Khue Vu Nguyen  William L. Nyhan
Affiliation:1. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, California, USA;2. Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, California, USA;3. Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, California, USA
Abstract:Lesch-Nyhan syndrome (LNS) 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 mutation which led to HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
Keywords:Lesch-Nyhan syndrome  HPRT1 gene  HGprt enzyme  HND  mutation  PCR  sequencing  epigenetics  epistasis  amyloid precursor protein
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