Revue neurologique · 2023
Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
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Kediha M I, Tazir M, Magnouche C, Sternberg D, Belarbi S, Eymard B, Ali Pacha L
Аннотация
BACKGROUND: Congenital myasthenic syndromes (CMS) are rare genetic neuromuscular disorders. The COLQ gene encoding the collagenous subunit of the acetyl cholinesterase enzyme tail is implicated in a synaptic form of CMS (also called type 5, according to the new gene table 2020 classification).
OBJECTIVE: To study the clinical phenotype of three families with COLQ gene mutations.
METHODS: We report a series of three consanguineous families, with seven affected patients, carrying three different mutations of the COLQ gene, one of which has never been reported in the literature before.
RESULTS: We studied their clinical and paraclinical phenotypes, and try to compare the three families as well as compare them with other series carrying COLQ gene mutations reported in the literature.
CONCLUSION: COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.
OBJECTIVE: To study the clinical phenotype of three families with COLQ gene mutations.
METHODS: We report a series of three consanguineous families, with seven affected patients, carrying three different mutations of the COLQ gene, one of which has never been reported in the literature before.
RESULTS: We studied their clinical and paraclinical phenotypes, and try to compare the three families as well as compare them with other series carrying COLQ gene mutations reported in the literature.
CONCLUSION: COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.