The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Novel SCN5A Mutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family
Open accessAbstract
Background—The SCN5A gene encoding the human cardiac sodium channel α subunit plays a key role in cardiac electrophysiology. Mutations in SCN5A lead to a large spectrum of phenotypes, including long-QT syndrome, Brugada syndrome, and isolated progressive cardiac conduction defect (Lenègre disease). Methods and Results—In the present study, we report the identification of a novel single SCN5A missense mutation causing either Brugada syndrome or an isolated cardiac conduction defect in the same family. A G-to-T mutation at position 4372 was identified by direct sequencing and was predicted to change a glycine for an arginine (G1406R) between the DIII-S5 and DIII-S6 domain of the sodium channel protein. Among 45 family members, 13 were carrying the G1406R SCN5A mutation. Four individuals from 2 family collateral branches showed typical Brugada phenotypes, including ST-segment elevation in the right precordial leads and right bundle branch block. One symptomatic patient with the Brugada phenotype required implantation of a cardioverter-defibrillator. Seven individuals from 3 other family collateral branches had isolated cardiac conduction defects but no Brugada phenotype. Three flecainide test were negative. One patient with an isolated cardiac conduction defect had an episode of syncope and required pacemaker implantation. An expression study of the G1406R-mutated SCN5A showed no detectable Na+current but normal protein trafficking. Conclusions—We conclude that the same mutation in the SCN5A gene can lead either to Brugada syndrome or to an isolated cardiac conduction defect. Our findings suggest that modifier gene(s) may influence the phenotypic consequences of a SCN5A mutation.
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Cites
Brugada, P., & Brugada, J. (1992) · Journal of the American College of Cardiology · doi:10.1016/0735-1097(92)90253-j · Cited by 3,331
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D., Moya, A., Borggrefe, M., Breithardt, G., et al. (1998) · Nature · doi:10.1038/32675 · Cited by 1,831
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L., Moss, A. J., Towbin, J. A., & Keating, M. T. (1995) · Cell · doi:10.1016/0092-8674(95)90359-3 · Cited by 1,686
Molecular mechanism for an inherited cardiac arrhythmia
Bennett, P. B., Yazawa, K., Makita, N., & George, A. L. (1995) · Nature · doi:10.1038/376683a0 · Cited by 957
Brugada, R., Brugada, J., Antzelevitch, C., Kirsch, G. E., Potenza, D., Towbin, J. A., & Brugada, P. (2000) · Circulation · doi:10.1161/01.cir.101.5.510 · Cited by 772
A Single Na + Channel Mutation Causing Both Long-QT and Brugada Syndromes
Bezzina, C., Veldkamp, M. W., van den Berg, M. P., Postma, A. V., Rook, M. B., Viersma, J.-W., van Langen, I. M., Tan-Sindhunata, G., Bink-Boelkens, M. T. E., van der Hout, A. H., et al. (1999) · Circulation Research · doi:10.1161/01.res.85.12.1206 · Cited by 656
Cardiac conduction defects associate with mutations in SCN5A
Schott, J.-J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., & Le Marec, H. (1999) · Nature Genetics · doi:10.1038/12618 · Cited by 640
Self-citationThe Brugada syndrome: clinical, electrophysiologic and genetic aspects
Gussak, I., Antzelevitch, C., Bjerregaard, P., Towbin, J., & Chaitman, B. (1999) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(98)00528-2 · Cited by 501
“Brugada” Syndrome: Clinical Data and Suggested Pathophysiological Mechanism
Alings, M., & Wilde, A. (1999) · Circulation · doi:10.1161/01.cir.99.5.666 · Cited by 422
A sodium-channel mutation causes isolated cardiac conduction disease
Tan, H. L., Bink-Boelkens, M. T. E., Bezzina, C. R., Viswanathan, P. C., Beaufort-Krol, G. C. M., van Tintelen, P. J., van den Berg, M. P., Wilde, A. A. M., & Balser, J. R. (2001) · Nature · doi:10.1038/35059090 · Cited by 399
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Sudden death associated with short-QT syndrome linked to mutations in HERG
Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., et al. (2004) · Circulation · doi:10.1161/01.cir.0000109482.92774.3a · Cited by 847
Probst, V., Veltmann, C., Eckardt, L., Meregalli, P. G., Gaita, F., Tan, H. L., Babuty, D., Sacher, F., Giustetto, C., Schulze-Bahr, E., et al. (2010) · Circulation · doi:10.1161/circulationaha.109.887026 · Cited by 847
Self-citationLondon, B., Michalec, M., Mehdi, H., Zhu, X., Kerchner, L., Sanyal, S., Viswanathan, P. C., Pfahnl, A. E., Shang, L. L., Madhusudanan, M., et al. (2007) · Circulation · doi:10.1161/circulationaha.107.703330 · Cited by 437
Papadatos, G. A., Wallerstein, P. M. R., Head, C. E. G., Ratcliff, R., Brady, P. A., Benndorf, K., Saumarez, R. C., Trezise, A. E. O., Huang, C. L.-H., Vandenberg, J. I., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.082121299 · Cited by 386
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
Metadata
- Authors
- Kyndt, F., Probst, V., Potet, F., Demolombe, S., Chevallier, J.-C., Baro, I., Moisan, J.-P., Boisseau, P., Schott, J.-J., Escande, D., & Le Marec, H.
- Venue
- Circulation
- Published
- 2001-12-17
- Volume
- 104
- Issue
- 25
- Pages
- 3081-3086
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2170828372
- Cited by
- 363
- References
- 17
- FWCI
- 12.24
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Kyndt, F., Probst, V., Potet, F., Demolombe, S., Chevallier, J.-C., Baro, I., Moisan, J.-P., Boisseau, P., Schott, J.-J., Escande, D., & Le Marec, H. (2001). Novel SCN5A Mutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family. Circulation. https://doi.org/10.1161/hc5001.100834
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