Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

ABSTRACT:

Objective

To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure.

Methods

Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12^A123.7 cells.

Results

Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis. The older brother died of respiratory failure at 5 days of age. The proband, now 4.5 years old, has been mechanically ventilated since birth with virtually no milestones achievement. Whole exome sequencing revealed homozygosity of SLC18A3 c.1078G>C, p.Gly360Arg in the affected brother

SUBMITTER: Aran A 

PROVIDER: S-EPMC5384838 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature