Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

ABSTRACT:

Objective

To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3.

Methods

Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing.

Results

The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1. Both patients demonstrated moderate clinical improvement on pyridostigmine. Patient 1 had a broader phenotype, including learning difficulties and left ventricular dysfunction. Electrophysiologic studies were typic

SUBMITTER: O'Grady GL 

PROVIDER: S-EPMC5075972 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature