Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: HPRT1 Mutations in New Japanese Families and PRPP Concentration |
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Authors: | Yasukazu Yamada Noriko Nomura Kenichiro Yamada Reiko Kimura Daisuke Fukushi Nobuaki Wakamatsu |
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Institution: | 1. Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japanyasyam@inst-hsc.jp;3. Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan |
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Abstract: | Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch–Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout with hyperuricemia. Four mutations were detected in two Lesch–Nyhan families and two families with partial deficiency since our last report. A new mutation of G to TT (c.456delGinsTT) resulting in a frameshift (p.Q152Hfs*3) in exon 3 has been identified in one Lesch–Nyhan family. In the other Lesch–Nyhan family, a new point mutation in intron 7 (c.532 + 5G > T) causing splicing error (exon 7 excluded, p.L163Cfs*4) was detected. In the two partial deficiency cases with hyperuricemia, two missense mutations of p.D20V (c.59A > T) and p.H60R (c.179A >G) were found. An increase of erythrocyte PRPP concentration was observed in the respective phenotypes and seems to be correlated with disease severity. |
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Keywords: | HPRT mutations Lesch–Nyhan syndrome PRPP concentration |
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