학술논문
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Document Type
Academic Journal
Author
Source
Journal of Clinical Neuromuscular Disease. Sep 01, 2018 20(1):14-27
Subject
Language
English
ISSN
1522-0443
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.