Journal of Neurology

, Volume 259, Issue 12, pp 2590–2598 | Cite as

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

  • Lubov Blumkin
  • Sara Kivity
  • Dorit Lev
  • Sarit Cohen
  • Ruth Shomrat
  • Tally Lerman-Sagie
  • Esther Leshinsky-SilverEmail author
Original Communication


Mutations in the potassium channel-related gene KCTD7 were described so far in a single family with progressive myoclonus epilepsy. We describe a unique phenotype: acute onset of myoclonus and ataxia, associated with abnormal opsoclonus-like eye movements; improvement of clinical symptoms under steroid treatment; and appearance of epileptic activity on EEG 2 years later without overt seizures. After excluding possible genetic causes, whole-genome exome sequencing was performed in order to identify the causative gene. One heterozygous missense mutation (R84W) was detected by exome sequencing and a large heterozygous deletion of exons 3 and 4 by MLPA analysis. The father is heterozygous for the R84W mutation and the mother is heterozygous for the exon 3+4 deletion. The mutation affects a highly conserved segment of the predicted protein, changing a basic amino acid into neutral. The large deletion probably results in a truncated protein. The different phenotype broadens the spectrum of KCTD7-related diseases. Therefore, patients diagnosed as having opsoclonus-myoclonus with an atypical course should be evaluated for KCTD7 mutations.


Opsoclonus-myoclonus-ataxia Exomics KCTD7 Corticosteroid treatment 



We thank Prof. Pranzatelli MR from the National Pediatric Myoclonus Center, Southern Illinois University School of Medicine for his great help in the evaluation and treatment of our patient.

Conflicts of interest



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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Lubov Blumkin
    • 1
    • 2
  • Sara Kivity
    • 1
    • 2
  • Dorit Lev
    • 2
    • 3
    • 6
  • Sarit Cohen
    • 5
  • Ruth Shomrat
    • 4
  • Tally Lerman-Sagie
    • 1
    • 2
    • 6
  • Esther Leshinsky-Silver
    • 2
    • 5
    • 6
    Email author
  1. 1.Pediatric NeurologyWolfson Medical CenterHolonIsrael
  2. 2.Metabolic Neurogenetic ClinicWolfson Medical CenterHolonIsrael
  3. 3.Genetics InstituteWolfson Medical CenterHolonIsrael
  4. 4.Pronto Diagnostics, LtdTel AvivIsrael
  5. 5.Molecular Genetic LaboratoryWolfson Medical CenterHolonIsrael
  6. 6.Sackler Medical SchoolTel Aviv UniversityTel AvivIsrael

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