A Novel Mutation of the Membrane MetalloEndopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature

The advent of next generation sequencing has revolutionized diagnostic approaches to hereditary polyneuropathies. Recently, mutations on the membrane metallo-endopeptidase (MME) gene, encoding neprilysin, have been related to the development of late-onset Charcot-Marie-Tooth disease type 2 (CMT2). H...

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Bibliographic Details
Published in:Laboratory medicine 2022-03, Vol.53 (2), p.210
Main Authors: Tsamis, Konstantinos I, Xiromerisiou, Georgia, Nikas, Ilias P, Giannakis, Alexandros, Konitsiotis, Spiridon, Sarmas, Ioannis
Format: Article
Language:English
Subjects:
Case studies
Genes
Genetic aspects
International economic relations
Lubrication and lubricants
Medical colleges
Neurophysiology
Polyneuropathies
Scientific equipment and supplies industry
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Summary:The advent of next generation sequencing has revolutionized diagnostic approaches to hereditary polyneuropathies. Recently, mutations on the membrane metallo-endopeptidase (MME) gene, encoding neprilysin, have been related to the development of late-onset Charcot-Marie-Tooth disease type 2 (CMT2). Here, we report the first Greek patient presenting with a slowly progressive late-onset axonal polyneuropathy and a novel, likely pathogenic, heterozygous variant in the MME gene. In addition, we have performed a systematic review of all published case reports of patients with MME mutations. The results of the studies show that MME variants can be inherited as both fully penetrant autosomal-recessive and incompletely penetrant autosomal-dominant traits. A number of heterozygous variants characterized as incompletely penetrant impose an increased risk of developing a CMT2-like phenotype late in life, identical to the case study described here. Greater mutation numbers in different populations and mutation-specific functional studies will be essential to identify the pathogenicity and inheritance of more MME variants. Keywords: neprilysin, membrane metallo-endopeptidase, MME, late-onset CMT,HMSN,CD10
ISSN:0007-5027
1943-7730
DOI:10.1093/labmed/Imab060