The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants
Open accessAbstract
Background—: Life-threatening disorders of heart rhythm may arise during infancy and can result in the sudden and tragic death of a child. We performed exome sequencing on 2 unrelated infants presenting with recurrent cardiac arrest to discover a genetic cause. Methods and Results—: We ascertained 2 unrelated infants (probands) with recurrent cardiac arrest and dramatically prolonged QTc interval who were both born to healthy parents. The 2 parent-child trios were investigated with the use of exome sequencing to search for de novo genetic variants. We then performed follow-up candidate gene screening on an independent cohort of 82 subjects with congenital long-QT syndrome without an identified genetic cause. Biochemical studies were performed to determine the functional consequences of mutations discovered in 2 genes encoding calmodulin. We discovered 3 heterozygous de novo mutations in either CALM1 or CALM2 , 2 of the 3 human genes encoding calmodulin, in the 2 probands and in 2 additional subjects with recurrent cardiac arrest. All mutation carriers were infants who exhibited life-threatening ventricular arrhythmias combined variably with epilepsy and delayed neurodevelopment. Mutations altered residues in or adjacent to critical calcium binding loops in the calmodulin carboxyl-terminal domain. Recombinant mutant calmodulins exhibited several-fold reductions in calcium binding affinity. Conclusions—: Human calmodulin mutations disrupt calcium ion binding to the protein and are associated with a life-threatening condition in early infancy. Defects in calmodulin function will disrupt important calcium signaling events in heart, affecting membrane ion channels, a plausible molecular mechanism for potentially deadly disturbances in heart rhythm during infancy.
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Adler, A., Novelli, V., Amin, A. S., Abiusi, E., Care, M., Nannenberg, E. A., Feilotter, H., Amenta, S., Mazza, D., Bikker, H., et al. (2020) · Circulation · doi:10.1161/circulationaha.119.043132 · Cited by 394
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Self-citationImpact of Genetics on the Clinical Management of Channelopathies
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Metadata
- Authors
- Crotti, L., Johnson, C. N., Graf, E., De Ferrari, G. M., Cuneo, B. F., Ovadia, M., Papagiannis, J., Feldkamp, M. D., Rathi, S. G., Kunic, J. D., Pedrazzini, M., Wieland, T., Lichtner, P., Beckmann, B.-M., Clark, T., Shaffer, C., Benson, D. W., Kääb, S., Meitinger, T., Strom, T. M., Chazin, W. J., Schwartz, P. J., & George, A. L.
- Venue
- Circulation
- Published
- 2013-03-05
- Volume
- 127
- Issue
- 9
- Pages
- 1009-1017
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2139214355
- Cited by
- 386
- References
- 35
- FWCI
- 23.94
- Type
- journal article
- Language
- en
- Open access
- green
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- Crotti, L., Johnson, C. N., Graf, E., De Ferrari, G. M., Cuneo, B. F., Ovadia, M., Papagiannis, J., Feldkamp, M. D., Rathi, S. G., Kunic, J. D., Pedrazzini, M., Wieland, T., Lichtner, P., Beckmann, B.-M., Clark, T., Shaffer, C., Benson, D. W., Kääb, S., Meitinger, T., . . . George, A. L. (2013). Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants. Circulation. https://doi.org/10.1161/circulationaha.112.001216
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