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Genetic Mosaicism in Calmodulinopathy.

Lisa M Wren1, Juan Jiménez-Jáimez2, Saleh Al-Ghamdi3

  • 1From the Department of Pharmacology (L.M.W., F.P., P.W.B., A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL.

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|August 28, 2019
PubMed
Summary

Novel calmodulin mutations cause congenital arrhythmia (calmodulinopathy). This study identifies two new mutations and reveals parental mosaicism, crucial for diagnosing unexplained fetal demise and arrhythmias.

Keywords:
arrhythmiacalmodulingenotypelong QT syndromemosaicism

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Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Ion Channel Physiology

Background:

  • Calmodulin (CaM) mutations are linked to congenital arrhythmia susceptibility, termed calmodulinopathy.
  • These mutations are predominantly de novo, but parental mosaicism can occur.
  • Expanding the known genotype-phenotype spectrum is essential for accurate diagnosis.

Purpose of the Study:

  • To characterize two novel calmodulin mutations and broaden the understanding of calmodulinopathies.
  • To investigate the role of parental mosaicism in affected families.
  • To elucidate the functional consequences of identified CaM variants on cardiac ion channels.

Main Methods:

  • Identification of CaM mutations via DNA sequencing in four probands.
  • Biochemical assays to assess Ca2+ binding affinity to CaM mutants.
  • Electrophysiological studies using human-induced pluripotent stem cell-derived cardiomyocytes to evaluate L-type Ca2+ channel function.

Main Results:

  • Two novel CaM variants (CALM3-E141K, CALM1-E141V) and one known variant (CALM3-D130G) were identified in patients with prolonged QTc intervals and ventricular arrhythmias.
  • Two novel mutations impaired Ca2+ binding to CaM's C-domain.
  • Mutant CaM disrupted Ca2+-dependent inactivation of L-type Ca2+ channels, prolonging action potential duration; somatic mosaicism was identified in two families.

Conclusions:

  • Two families presented with somatic mosaicism, highlighting its role in arrhythmogenic calmodulinopathy.
  • Novel CaM mutations at residue E141 dysregulate L-type Ca2+ channels.
  • Parental mosaicism should be suspected in cases of unexplained fetal arrhythmia or demise with a confirmed CaM mutation.