A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
INTERNAL MEDICINE(2022)
摘要
The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. 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 PRPS 1. Despite showing a typical clinical picture, the decrease in enzyme activity measured in the patient???s erythrocytes was milder than in previously reported cases.
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关键词
Key words, CMTX5, hereditary neuropathy, DFN2, PRPS1, PRS-1
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