Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
复制标题
次黄嘌呤鸟嘌呤磷酸核糖转移酶 (HPRT) 缺陷：日本新家族中的 HPRT1 突变和 PRPP 浓度。
DOI：
10.1080/15257770.2013.865743
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
et al.
中科院分区：
文献类型：
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作者：
Yamada Y;Nomura N;Yamada K;et al.
次黄嘌呤鸟嘌呤磷酸核糖基转移酶（HPRT）的突变引起Lesch-Nyhan综合征，其特征在于高尿酸血症、严重的运动残疾和自伤行为，或HPRT相关的痛风伴高尿酸血症。自上次报告以来，在两个Lesch-Nyhan家族和两个部分缺陷家族中检测到四个突变。在一个Lesch-Nyhan家系中发现了一个新的G → TT突变（c.456delGinsTT），导致外显子3的移码（p.Q152Hfs*3）。在另一个Lesch-Nyhan家族中，检测到内含子7的一个新的点突变（c.532 + 5G > T），导致剪接错误（排除外显子7，p.L163Cfs*4）。在2例部分缺乏型高尿酸血症患者中，发现p.D20V（c.59A > T）和p.H60R（c.179A >G）两种错义突变，其红细胞PRPP浓度在相应表型中均升高，并与疾病严重程度相关。
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.