Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report

Eur J Med Genet. 2021 Apr;64(4):104184. doi: 10.1016/j.ejmg.2021.104184. Epub 2021 Feb 24.


The homozygous missense variant in the GOSR2 gene (c.430G > T) is known to be associated with progressive myoclonic epilepsy (PME). The clinical presentation of GOSR2-related PME involves the development of ataxia, seizures, scoliosis, areflexia, and mildly elevated creatine kinase. Recently, it has been suggested that some compound heterozygous variants in GOSR2 are associated with a predominant muscular dystrophy phenotype. Here we report a case of a now 22 month old female who presented with congenital hypotonia and persistently elevated creatine kinase levels. Whole exome sequencing showed pathogenic compound heterozygous variants in GOSR2 (c.430G > T and c.82C > T). This case contributes to the expanding clinical spectrum of GOSR2 variants with PME representing the milder end and congenital muscular dystrophy representing the more severe end of the spectrum.

Keywords: Dystroglycanopathy; GOSR2; Muscular dystrophy; PME; Progressive myoclonic epilepsies.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Electroencephalography
  • Exome Sequencing
  • Female
  • Heterozygote
  • Humans
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation, Missense
  • Qb-SNARE Proteins / genetics*


  • GOSR2 protein, human
  • Qb-SNARE Proteins