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Case Report
Membrane metalloendopeptidase (MME) gene mutation associated type 2T late-onset Charcot-Marie-Tooth disease: Case report
1 Department of Neurology the Federal University of Rio de Janeiro – UFRJ, Brazil
2 Department of Neurology– UNIG and Coordinator of the Academic Master's Degree in Neurology at the University of Vassouras, Brazil
3 Department of Neurology, The Federal University of Rio de Janeiro – UFRJ, Brazil
4 Federal Institute of Education, Science and Technology of Rio de Janeiro – IFRJ, Brazil
5 Medical Student, Mato Grosso State University (UNEMAT), Brazil
6 Department of Medicine – UNIFESP – Paulista School of Medicine, Brazil
Address correspondence to:
Antônio Marcos da Silva Catharino
Iguaçu University – UNIG – Hospital Geral de Nova Iguaçu,
Brazil
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Article ID: 101257Z01MF2021
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de Freitas MRG, Orsini M, da Silva Catharino AM, Junior MSA, Souza FS, Oliveira ASB. Membrane metalloendopeptidase (MME) gene mutation associated type 2T late-onset Charcot-Marie- Tooth disease: Case report. Int J Case Rep Images 2021;12:101257Z01MF2021.ABSTRACT
Introduction: Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age. Some patients may carry heterozygous MME (membrane metalloendopeptidase gene) mutations. The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families in which segregation was analyzed in our patient, such as, clinical picture and prognosis.
Case Report: We report a CMT (type 2) case with symmetric foot deformities, slowly progressive weakness and wasting in the distal parts of lower limbs, and length-dependent sensory loss. Symptoms, such as paraesthesias and numbness were also present. We identified recessive mutations in MME, after thorough clinical and electrophysiological evaluation. We identified mutations in the membrane metalloendopeptidase (MME) gene in CMT disease (adult-form).
Conclusion: The MME gene encodes neprilysin (NEP), which is termed cluster of differentiation 10 (CD10), and may play a role in degrading avariety of neuropeptides. Neprilysin has been found not only in the central nervous system (CNS), but also in the peripheral nervous system (PNS). The role of NEP in PNS is unclear; however, it is well known that NEP is one of the most prominent b-amyloid (Ab)-degrading enzymes in the CNS.
Keywords: Clinical genetics, Diagnoses, Genetic screening/counseling, Neuromuscular disease, Peripheral nerve disease
SUPPORTING INFORMATION
Author Contributions
Marcos RG de Freitas - Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Marco Orsini - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Antônio Marcos da Silva Catharino - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Mauricio Sant’ Anna Junior - Acquisition of data, Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Felipe dos Santos Souza - Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Acary Souza Bulle Oliveira - Analysis of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2021 Marcos RG de Freitas et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
