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

Hannah Henige, Shagun Kaur, Kara Pappas

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4 Scopus citations

Abstract

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.

Original languageEnglish
Article number104184
JournalEuropean Journal of Medical Genetics
Volume64
Issue number4
DOIs
StatePublished - Apr 2021

Keywords

  • Dystroglycanopathy
  • GOSR2
  • Muscular dystrophy
  • PME
  • Progressive myoclonic epilepsies

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