Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome

Clin Dysmorphol. 2021 Jul 1;30(3):121-124. doi: 10.1097/MCD.0000000000000368.

Abstract

Homozygous or compound heterozygous mutations in STRADA cause polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE), with additional features of distinctive facial traits and severe developmental delay or intellectual disability. This syndrome was first defined in 16 Old Order Mennonite patients, carrying a homozygous STRADA deletion of exon 9-13. Five additional PMSE patients have been reported since, each of them with loss-of-function variants. We report a female patient with the typical clinical features of PMSE, homozygous for a novel STRADA missense mutation c.792T>A (p.Ser264Arg) in exon 10. This finding contributes to the further delineation of the phenotype of PMSE.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics*
  • Adaptor Proteins, Vesicular Transport / metabolism*
  • Child
  • Developmental Disabilities / genetics
  • Epilepsy, Generalized / genetics
  • Epileptic Syndromes / genetics*
  • Female
  • Homozygote
  • Humans
  • Intellectual Disability / genetics
  • Megalencephaly / genetics
  • Mutation, Missense / genetics
  • Phenotype
  • Polyhydramnios / genetics
  • Pregnancy

Substances

  • Adaptor Proteins, Vesicular Transport
  • STRADA protein, human