Abstract | INTRODUCTION: CASE REPORT: We describe a novel PMP22 gene point mutation (c.84G>T;p.(Trp28Cys)) in three patients of a Portuguese family with variable phenotypes, ranging from asymptomatic to mild complaints of distal limb numbness and gait difficulties, with the age of onset of symptoms ranging from mid-twenties to late-sixties, and no associated disability. In all affected patients, there was evidence of diffuse demyelinating sensorimotor polyneuropathy. Hearing loss does not seem to be associated with this variant, albeit neuropathic pain was reported. CONCLUSIONS: These findings suggest that this particular point mutation in the PMP22 gene is associated with a mild phenotype, further emphasizing that there are still unknown mechanisms (genetic and/or epigenetic) that may play a role in the clinical spectrum of CMT1E patients. Next generation sequencing panels including commonly mutated genes in CMT should be considered in CMT1 cases negative for PMP22 gene duplication.
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Authors | Marco Fernandes, André Caetano, Luís Castelhano, Luís Santos |
Journal | Clinical neurology and neurosurgery
(Clin Neurol Neurosurg)
Vol. 208
Pg. 106829
(Sep 2021)
ISSN: 1872-6968 [Electronic] Netherlands |
PMID | 34332267
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2021 Elsevier B.V. All rights reserved. |
Chemical References |
- Myelin Proteins
- PMP22 protein, human
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Topics |
- Adult
- Aged
- Charcot-Marie-Tooth Disease
(genetics, physiopathology)
- DNA Mutational Analysis
- Female
- Humans
- Middle Aged
- Myelin Proteins
(genetics)
- Neural Conduction
(physiology)
- Pedigree
- Phenotype
- Point Mutation
- Portugal
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