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Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy

Birgit Krabichler1, Kevin Rostasy, Matthias Baumann

  • 1Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria.

Annals of Human Genetics
|May 22, 2012
PubMed

Insights

This study identifies a novel mutation in the KCTD7 gene causing progressive myoclonic epilepsy (PME). This finding suggests KCTD7 mutations are a recurrent cause of this severe neurological disorder.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Progressive myoclonic epilepsy (PME) is a group of rare neurological disorders.
  • PME presents with myoclonus, seizures, and progressive neurological decline.
  • Early-onset PME often shows resistance to therapy and severe developmental delay.

Observation:

  • A 6-year-old boy with early-onset, therapy-resistant PME and developmental delay was studied.
  • Genome-wide linkage analysis pinpointed candidate regions for the genetic cause.
  • The potassium channel tetramerization domain containing 7 (KCTD7) gene was identified as a strong candidate.

Findings:

  • A novel homozygous missense mutation (p.R94W) was discovered in exon 2 of the KCTD7 gene.
  • This mutation was found in a highly conserved segment of the gene.
  • This is the second reported family with PME linked to KCTD7 mutations.

Implications:

  • KCTD7 mutations represent a significant genetic cause of PME.
  • Further research into KCTD7's role in epilepsy is warranted.
  • Genetic diagnosis of PME may be improved by screening KCTD7.

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