A Novel PRPS1 Mutation in a Japanese Patient with CMTX5

Intern Med. 2021 Nov 20. doi: 10.2169/internalmedicine.8029-21. Online ahead of print.ABSTRACTThe 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.PMID:34803094 | DOI:10.2169/internalmedicine.8029-21

Source: Internal Medicine - November 22, 2021 Category: Internal Medicine Authors: Shunichi Shirakawa Tatufumi Murakami Akihiro Hashiguchi Hiroshi Takashima Hiroshi Hasegawa Kimiyoshi Ichida Yoshihide Sunada Source Type: research