The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
Open accessAbstract
Background: Long QT syndrome (LQTS) is the first described and most common inherited arrhythmia. Over the last 25 years, multiple genes have been reported to cause this condition and are routinely tested in patients. Because of dramatic changes in our understanding of human genetic variation, reappraisal of reported genetic causes for LQTS is required. Methods: Utilizing an evidence-based framework, 3 gene curation teams blinded to each other’s work scored the level of evidence for 17 genes reported to cause LQTS. A Clinical Domain Channelopathy Working Group provided a final classification of these genes for causation of LQTS after assessment of the evidence scored by the independent curation teams. Results: Of 17 genes reported as being causative for LQTS, 9 ( AKAP9, ANK2, CAV3, KCNE1, KCNE2, KCNJ2, KCNJ5, SCN4B, SNTA1 ) were classified as having limited or disputed evidence as LQTS-causative genes. Only 3 genes ( KCNQ1, KCNH2, SCN5A ) were curated as definitive genes for typical LQTS. Another 4 genes ( CALM1, CALM2, CALM3, TRDN ) were found to have strong or definitive evidence for causality in LQTS with atypical features, including neonatal atrioventricular block. The remaining gene ( CACNA1C ) had moderate level evidence for causing LQTS. Conclusions: More than half of the genes reported as causing LQTS have limited or disputed evidence to support their disease causation. Genetic variants in these genes should not be used for clinical decision-making, unless accompanied by new and sufficient genetic evidence. The findings of insufficient evidence to support gene-disease associations may extend to other disciplines of medicine and warrants a contemporary evidence-based evaluation for previously reported disease-causing genes to ensure their appropriate use in precision medicine.
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Self-citationA molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
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CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
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Wilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martinez, H., Behr, E. R., Bezzina, C. R., et al. (2022) · Europace · doi:10.1093/europace/euac030 · Cited by 380
Self-citationJames, C. A., Jongbloed, J. D. H., Hershberger, R. E., Morales, A., Judge, D. P., Syrris, P., Pilichou, K., Domingo, A. M., Murray, B., Cadrin-Tourigny, J., et al. (2021) · Circulation: Genomic and Precision Medicine · doi:10.1161/circgen.120.003273 · Cited by 238
Self-citationHow Will Genetics Inform the Clinical Care of Atrial Fibrillation?
Shoemaker, M. B., Shah, R. L., Roden, D. M., & Perez, M. V. (2020) · Circulation Research · doi:10.1161/circresaha.120.316365 · Cited by 27
Self-citationPrediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning
Immadisetty, K., Fang, X., Ramon, G. S., Hartle, C. M., McCoy, T. P., Center, R. G., Mirshahi, T., Delisle, B. P., & Kekenes-Huskey, P. M. (2023) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2023.05.002 · Cited by 5
Metadata
- Authors
- Adler, A., Novelli, V., Amin, A. S., Abiusi, E., Care, M., Nannenberg, E. A., Feilotter, H., Amenta, S., Mazza, D., Bikker, H., Sturm, A. C., Garcia, J., Ackerman, M. J., Hershberger, R. E., Perez, M. V., Zareba, W., Ware, J. S., Wilde, A. A. M., & Gollob, M. H.
- Venue
- Circulation
- Published
- 2020-02-11
- Volume
- 141
- Issue
- 6
- Pages
- 418-428
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W3003054269
- Cited by
- 394
- References
- 39
- FWCI
- 32.40
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Adler, A., Novelli, V., Amin, A. S., Abiusi, E., Care, M., Nannenberg, E. A., Feilotter, H., Amenta, S., Mazza, D., Bikker, H., Sturm, A. C., Garcia, J., Ackerman, M. J., Hershberger, R. E., Perez, M. V., Zareba, W., Ware, J. S., Wilde, A. A. M., & Gollob, M. H. (2020). An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation. https://doi.org/10.1161/circulationaha.119.043132
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