%0 Journal Article
%T A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
%A Shirakawa S
%A Murakami T
%A Hashiguchi A
%A Takashima H
%A Hasegawa H
%A Ichida K
%A Sunada Y
%J Intern Med
%V 0
%N 0
%D Nov 2021 20
%M 34803094
%F 1.282
%R 10.2169/internalmedicine.8029-21
%X 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.