Journal of clinical neuromuscular disease · 2018
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
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Selvam Pavalan, Arunachal Gautham, Danda Sumita, Chapla Aaron, Sivadasan Ajith, Alexander Mathew, Thomas Maya Mary, Thomas Nihal J
Аннотация
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.
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.
Предметные рубрики MeSH
AcetylcholinesteraseAdolescentAdultChildChild, PreschoolCohort StudiesCollagenFemaleGenetic Association StudiesGlutamine-Fructose-6-Phosphate Transaminase (Isomerizing)HumansIndiaMaleMiddle AgedMuscle ProteinsMutationMyasthenic Syndromes, CongenitalReceptors, NicotinicSeverity of Illness IndexYoung Adult