Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families

Abstract

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of rare genetic disorders. The acetyl choline receptor contains five subunits, with a predominance of mutations affecting the epsilon subunit gene called cholinergic receptor nicotinic epsilon (CHRNE) gene.

Objective: To study the clinical phenotype of 17 families with CHRNE gene mutations.

Methods: We report a series of 17 families with 22 affected patients carrying different mutations encoding CHRNE proteins.

Results: We studied their clinical and biological phenotypes, as well as their evolutionary profile and their response to the different therapies proposed. A phenotypic comparison was made between the families carrying the founding Maghrebian mutation and the other mutations found in this series.

Conclusion: The CHRNE gene mutations are the most frequent ones in CMS. The phenotypes reported in this study are heterogeneous, and can depend on the causative mutation.

Keywords: CHRNE; Congenital; Myasthenia; Phenotype; Post-synaptic.