Conclusion
We have identified six novel mutations in Japanese families of HPRT deficiency manifesting different clinical phenotypes. A missense mutation (Y195C) was identified in a patient with hyperuricemia and gout (Case 1). In Cases 2 and 3 with mild neurological symptoms, missense mutations L147P and K159E were detected, respectively. A point mutation 532+2T>C causing splicing error was found in a severe form of partial HPRT deficiency (Case 4). Two mutations causing splicing error, 609+1delGT (Case 5) and 610-−1G>A (Case 6), resulted in the classic Lesch-Nyhan syndrome.
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Yamada, Y., Nomura, N., Kitoh, H., Wakamatsu, N., Ogasawara, N. (2002). Novel Genetic Mutations Responsible for the HPRT Deficiency and the Clinical Phenotypes in Japanese. In: Zoref-Shani, E., Sperling, O. (eds) Purine and Pyrimidine Metabolism in Man X. Advances in Experimental Medicine and Biology, vol 486. Springer, Boston, MA. https://doi.org/10.1007/0-306-46843-3_6
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DOI: https://doi.org/10.1007/0-306-46843-3_6
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