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First characterization of congenital myasthenic syndrome type 5 in North Africa

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Abstract

Background

Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders can result from mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) essentially associated with autosomal recessive inheritance. With the lowered cost of genetic testing and increased access to next-generation sequencing, many mutations have been reported to date.

Methods and results

In this study we identified the first COLQ homozygous mutation c.1193T>A in the North African population. This study outlines the genetic and phenotypic features of a CMS patient in a Moroccan family. It also describes a novel COLQ missense mutation associated with CMS-5.

Conclusion

COLQ mutations are probably underdiagnosed in these North African populations, this is an issue as CMS-5 may be treated with ephedrine, and albuterol. Indeed, patients can seriously benefit and even recover after the treatment that should be planned according to genetic tests and clinical findings.

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Fig. 1

Data availability

The data are available on request from the corresponding author.

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Acknowledgements

We thank the families and their relatives for participating in this study.

Funding

The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

Author information

Authors and Affiliations

  1. Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M’Sik, Hassan II University, Casablanca, Morocco

    Rochdi Khaoula & Rachid Saïle

  2. Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco

    Rochdi Khaoula, Halima Nahili & Abdelhamid Barakat

  3. Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille Université, Marseille, France

    Mathieu Cerino

  4. Département de Génétique Médicale, APHM, Hôpital Timone Enfants, Marseille, France

    Mathieu Cerino, Svetlana Gorokhova & Martin Krahn

  5. APHM, Hôpital de la Conception, Laboratoire de Biochimie, Marseille, France

    Mathieu Cerino

  6. Faculté des Sciences Médicales et Paramédicales, Marseille Medical Genetics, Aix Marseille Université, INSERM, Marseille, France

    Nathalie Da Silva

  7. INSERM, MMG, UMR 1251, Aix Marseille University, Marseille, France

    Valerie Delague

  8. Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children’s Hospital, and Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco

    Yamna Kriouile

  9. Inserm, U1251-MMG, Marseille Medical Genetics, Aix-Marseille Université, Marseille, France

    Svetlana Gorokhova, Marc Bartoli & Martin Krahn

Authors
  1. Rochdi Khaoula
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  2. Mathieu Cerino
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  3. Nathalie Da Silva
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Corresponding author

Correspondence to Rochdi Khaoula.

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The authors declare that they have no conflict of interest.

Consent to participate

All patients gave written informed consent for genetic testing and study related procedures.

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Obtained.

Ethical approval

The study protocol was approved by committee on ethics of Mohamed V university of Rabat, faculty of medicine and pharmacy (ID 09/19).

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Khaoula, R., Cerino, M., Da Silva, N. et al. First characterization of congenital myasthenic syndrome type 5 in North Africa. Mol Biol Rep 48, 6999–7006 (2021). https://doi.org/10.1007/s11033-021-06530-7

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  • DOI: https://doi.org/10.1007/s11033-021-06530-7

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