Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations |
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| Authors: | Yasukazu Yamada Noriko Nomura Kenichro Yamada Nobuaki Wakamatsu Kiyoko Kaneko Shin Fujimori |
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| Affiliation: | 1. Department of Genetics , Institute for Developmental Research, Aichi Human Service Center , Kasugai Aichi, Japan;2. Laboratory of Analytical Chemistry , School of Pharmaceutical Science, Teikyo University , Japan;3. Department of Internal Medicine , School of Medicine, Teikyo University , Japan |
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| Abstract: | Inherited mutation of hypoxanthine guanine phosphoribosyltransferase, (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. We have identified a number of HPRT mutations in patients manifesting different clinical phenotypes, by analyzing all nine exons of the HPRT gene (HPRT1) from genomic DNA and reverse transcribed mRNA using the PCR technique coupled with direct sequencing. Recently, we detected two novel mutations: a single nucleotide substitution (430C > T) resulting in a nonsense mutation Q144X, and a deletion of HPRT1 exon 1 expressing no mRNA of HPRT. Furthermore, we summarized the spectrum of 56 Japanese HPRT mutations. |
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| Keywords: | HPRT deficiency mutations Lesch-Nyhan syndrome Kelley-Seegmiller syndrome |
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