Journal
NEUROMUSCULAR DISORDERS
Volume 30, Issue 10, Pages 851-858Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2020.08.362
Keywords
Neuromuscular junction; Myopathy; Novel variants; Whole exome sequencing; COLQ
Categories
Funding
- Thailand Research Fund [DPG6180001]
- Medical Genomics Cluster
- Chulalongkorn Academic Advancement Into Its 2nd Century Project
- Health Systems Research Institute
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Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the disease-causing variants in Thai patients. We recruited patients with a diagnosis of CMS based on clinical and electrophysiologic findings, and whole exome sequencing was performed. Thirteen patients aged from 2 to 54 years (median: 8 years) from 12 families were enrolled. Variants were identified in 9 of 13 patients (69%). Five novel variants and two previously reported variant were found in the COLQ, RAPSN and CHRND gene. The previously reported c.393+1G >A splice site variant in the COLQ gene was found in a majority of patients. Five patients harbor the homozygous splice site c.393+1G >A variant, and two patients carry compound heterozygous c.393+1G >A, c.718-1G >T, and c.393+1G >A, c.865G >T (p.Gly289Ter) variants. The novel variants were also found in RAPSN (p.Cys251del, p.Arg282Cys) and CHRND (p.Met481del). Molecular diagnosis in CMS patients can guide treatment decisions and may be life changing, especially in patients with COLQ mutations. (C) 2020 Elsevier B.V. All rights reserved.
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