Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment

Katherine Nelson, Christopher Jackman, Jennifer Bell, Chie-Schin Shih, Katelyn Payne, Stephen Dlouhy, Larry Walsh

Research output: Contribution to journalArticle

Abstract

Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication. We report a novel STRADA gene deletion of exons 7-9 in 2 sisters from nonconsanguineous parents, as well as an improvement in seizure control in 1 sibling following treatment with sirolimus, an m-Tor inhibitor of potential benefit to patients with this genetic mutation.

Original languageEnglish (US)
Pages (from-to)925-929
Number of pages5
JournalJournal of Child Neurology
Volume33
Issue number14
DOIs
StatePublished - Dec 1 2018

Keywords

  • autosomal recessive
  • epileptic encephalopathy
  • facial dysmorphism
  • neonatal seizures
  • nephrocalcinosis
  • neurodevelopment
  • next-generation sequencing
  • seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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