A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
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- Shirakawa Shunichi
- Department of Neurology, Kawasaki Medical School, Japan
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- Murakami Tatsufumi
- Department of Neurology, Kawasaki Medical School, Japan
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- Hashiguchi Akihiro
- Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan
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- Takashima Hiroshi
- Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Japan
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- Hasegawa Hiroshi
- Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, School of Pharmacy, Japan
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- Ichida Kimiyoshi
- Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, School of Pharmacy, Japan
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- Sunada Yoshihide
- Department of Neurology, Kawasaki Medical School, Japan
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Abstract
<p>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 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. </p>
Journal
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- Internal Medicine
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Internal Medicine 61 (11), 1749-1751, 2022-06-01
The Japanese Society of Internal Medicine