Abstract
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. 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. 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.
Highlights
The congenital myasthenic syndromes (CMS) are rare disorders described by abnormal neuromuscular transmission
The novel test based on next-generation sequencing (NGS) methods has been started and After bionformatic filtration and genetic interpretation, The patient with a diagnosis of CMS-5 harbors a homozygous COLQ variant one remaining homozygous COLQ variant NM_005677.4:c.1193T>A p.(Ile398Asn) chr3:15497408 was retained for the molecular diagnosis of this patient
The VarAFT filters led us to conclude that the c.1193T>A COLQ mutation (NM_005677.4, exon 15) is probably associated with the myasthenic congenital phenotype observed for the patient (Table 3)
Summary
The congenital myasthenic syndromes (CMS) are rare disorders described by abnormal neuromuscular transmission. Most cases of CMS are associated with autosomal recessive inheritance. The onset of symptoms is typically at birth, certain patients are diagnosed later in childhood or early adult life[1]. Patients present different manifestations depending on the type of the congenital myasthenic syndrome. Symptoms may appear at birth or until infancy, other cases may present signs until adolescence or adulthood due to the under diagnosis[2]. Treatment uses ephedrine and albuterol/salbutamol[3]. Treatment with albuterol brought about the reformist increment of muscle quality, practice resistance, and ophthalmoplegia[4]
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