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- Title
Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.
- Authors
Tsamis, Konstantinos I; Xiromerisiou, Georgia; Nikas, Ilias P; Giannakis, Alexandros; Konitsiotis, Spiridon; Sarmas, Ioannis
- Abstract
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.
- Subjects
MUSCULAR atrophy; GENETIC mutation; SERUM; DELAYED onset of disease; CREATINE kinase; LEG; POLYNEUROPATHIES; ENDOPEPTIDASES
- Publication
Laboratory Medicine, 2022, Vol 53, Issue 2, p210
- ISSN
0007-5027
- Publication type
Article
- DOI
10.1093/labmed/lmab060