Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.
PURINE AND PYRIMIDINE METABOLISM IN MAN X(2002)
摘要
ConclusionWe 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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关键词
hprt deficiency,novel genetic mutations responsible,clinical phenotypes
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