Abstract：
The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), CMTX5 (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a very rare hereditary neuropathy characterized by deafness, optic atrophy, and polyneuropathy. We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 G>C in PRPS1. Despite showing a typical clinical picture, the decrease in enzyme activity measured in the patient\'s erythrocytes was milder than in previously reported cases.
摘要：
PRPS1基因编码磷酸核糖焦磷酸合成酶1(PRS-1)。与PRPS1突变相关的表型包括DFN2（轻度PRS-1缺乏症），CMTX5（中度PRS-1缺乏症），艺术综合征（严重PRS-1缺乏），和PRS-1超活性1。X连锁Charcot-Marie-Tooth病5型（CMTX5）是一种非常罕见的遗传性神经病，以耳聋为特征，视神经萎缩,和多发性神经病。我们在此报告了一名日本CMTX5患者，该患者在PRPS1中具有新的半合子突变c.82G>C。尽管显示了典型的临床表现，与以前报道的病例相比，患者红细胞中测得的酶活性下降较轻。
