Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.

Humans Myasthenic Syndromes, Congenital / diagnosis Muscle Proteins / genetics Mutation Phenotype Acetylcholinesterase / genetics
COLQ Congenital Myasthenia Phenotypes Synaptic

Journal

Revue neurologique
ISSN: 0035-3787
Titre abrégé: Rev Neurol (Paris)
Pays: France
ID NLM: 2984779R

Informations de publication

Date de publication:
Jun 2023
Historique:
received: 30 06 2022
revised: 24 09 2022
accepted: 29 09 2022
medline: 16 6 2023
pubmed: 11 2 2023
entrez: 10 2 2023
Statut: ppublish

Résumé

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). To study the clinical phenotype of three families with COLQ gene mutations. 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. 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. COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.

Sections du résumé

BACKGROUND 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 OBJECTIVE
To study the clinical phenotype of three families with COLQ gene mutations.
METHODS 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 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 CONCLUSIONS
COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.

Identifiants

DOI: 10.1016/j.neurol.2022.09.008 PMID: 36764859
pubmed: 36764859
pii: S0035-3787(23)00754-3
doi: 10.1016/j.neurol.2022.09.008
pii:
doi:

Substances chimiques

Muscle Proteins 0
Acetylcholinesterase EC 3.1.1.7

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

570-575

Informations de copyright

Copyright © 2023 Elsevier Masson SAS. All rights reserved.

Auteurs

M I Kediha (MI)

Neurology department, Mustapha Bacha university Hospital, Algiers, Algeria. Electronic address: kediha.islam@gmail.com.

M Tazir (M)

Neurology department, Mustapha Bacha university Hospital, Algiers, Algeria.

C Magnouche (C)

Neurology department, Ali Ait Idir university Hospital, Algiers, Algeria.

D Sternberg (D)

Myogenetics laboratory, Pitié Salpetriere university hospital, Paris, France.

S Belarbi (S)

Neurology department, Ali Ait Idir university Hospital, Algiers, Algeria.

B Eymard (B)

Neurology department, Pitié Saleptriere university hospital, Paris, France.

L Ali Pacha (L)

Neurology department, Mustapha Bacha university Hospital, Algiers, Algeria.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Congenital myasthenic syndrome by mutation of...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndromes myasthéniques congénitaux › Congenital myasthenic syndrome by mutation of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines contractiles › Protéines du muscle › Congenital myasthenic syndrome by mutation of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Congenital myasthenic syndrome by mutation of...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Congenital myasthenic syndrome by mutation of...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Esterases › Carboxylic ester hydrolases › Cholinesterases › Acetylcholinesterase › Congenital myasthenic syndrome by mutation of...