A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.
CMTX5
PRPS1
congenital deafness
sural biopsy
Journal
Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Titre abrégé: Neuropathology
Pays: Australia
ID NLM: 9606526
Informations de publication
Date de publication:
Oct 2019
Oct 2019
Historique:
received:
28
02
2019
revised:
16
05
2019
accepted:
28
06
2019
pubmed:
23
8
2019
medline:
7
3
2020
entrez:
22
8
2019
Statut:
ppublish
Résumé
X-linked Charcot-Marie-Tooth disease-5 (CMTX5) is a rare hereditary disorder caused by mutations in the gene for phosphoribosyl pyrophosphate synthetase-1 (PRPS1). We investigated a boy with a novel PRPS1 mutation (c.334G>C, p.V112L) via genetic, neuropathological and enzymatic tests. The proband was a 13-year-old boy with congenital non-syndromic sensorineural deafness. At 3 year old, he developed progressive distal weakness of all limbs with muscle atrophy of both hands and shanks. Nerve conduction study revealed the loss of sensory nerve action potentials, and slowing down of motor nerve conduction velocities with a decrease of amplitudes of compound motor action potentials. Visual evoked potentials and brainstem auditory evoked potentials were not bilaterally evocable. Sural biopsy proved the loss of myelinated nerve fibers, with axonal degeneration, regenerating clusters and onion bulbs. Enzymatically, PRPS1 activity was close to zero in the proband and mildly reduced in his mother, compared with controls. To our knowledge, this is the first report of CMTX5 in a Chinese population. The genetic finding has expanded the genotypic spectrum of PRPS1 mutations.
Substances chimiques
PRPS1 protein, human
EC 2.7.6.1
Ribose-Phosphate Pyrophosphokinase
EC 2.7.6.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
342-347Informations de copyright
© 2019 Japanese Society of Neuropathology.
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