The Department of Endocrinology, 
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
- Department of Medical Genetics, Christian Medical College, Vellore, India.
- Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.
- Department of Neurological Sciences, Christian Medical College, Vellore, India.
Journal of clinical neuromuscular disease Vol. 20 · Issue 1 · pp. 14-27
PMID 30124556 DOI 10.1097/cnd.0000000000000222
Cite This Article
Pavalan Selvam, Gautham Arunachal, Sumita Danda, Aaron Chapla, Ajith Sivadasan, Mathew Alexander, Maya Mary Thomas, Nihal J Thomas. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. Journal of clinical neuromuscular disease. 2018;20(1):14-27. doi:10.1097/cnd.0000000000000222
Abstract
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes.
METHODS: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients.
RESULTS: We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. A common pathogenic COLQ variant was also detected in 4 patients with isolated limb-girdle congenital myasthenia.
CONCLUSIONS: Targeted screening of 5 genes is an effective alternate test for CMS, and an affordable one even in a developing country such as India. In addition, we recommend that patients with isolated limb-girdle congenital myasthenia be screened initially for the common COLQ pathogenic variant. This study throws the first light on the genetic landscape of CMSs in India.
Keywords
- Acetylcholinesterase
- Adolescent
- Adult
- Child
- Child
- Preschool
- Cohort Studies
- Collagen
- Female
- Genetic Association Studies
- Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)
- Humans
- India
- Male
- Middle Aged
- Muscle Proteins
- Mutation
- Myasthenic Syndromes
- Congenital
- Receptors
- Nicotinic
- Severity of Illness Index
- Young Adult
