The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
Open accessAbstract
Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations, incomplete penetrance, and/or variable expressivity. Genome-level sequencing can overcome these complications. Extreme childhood phenotypes are promising candidates for new Mendelian traits. One example is early onset hypertension, a rare form of a global cause of morbidity and mortality. We performed exome sequencing of 40 unrelated subjects with hypertension due to primary aldosteronism by age 10. Five subjects (12.5%) shared the identical, previously unidentified, heterozygous CACNA1HM1549V mutation. Two mutations were demonstrated to be de novo events, and all mutations occurred independently. CACNA1H encodes a voltage-gated calcium channel (CaV3.2) expressed in adrenal glomerulosa. CACNA1HM1549V showed drastically impaired channel inactivation and activation at more hyperpolarized potentials, producing increased intracellular Ca2+, the signal for aldosterone production. This mutation explains disease pathogenesis and provides new insight into mechanisms mediating aldosterone production and hypertension.
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Flynn, J. T., Kaelber, D. C., Baker-Smith, C. M., Blowey, D., Carroll, A. E., Daniels, S. R., de Ferranti, S. D., Dionne, J. M., Falkner, B., Flinn, S. K., et al. (2017) · Pediatrics · doi:10.1542/peds.2017-1904 · Cited by 3,651
Diagnosis and treatment of primary aldosteronism: practical clinical perspectives
Young, W. F. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12831 · Cited by 325
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Vaidya, A., Mulatero, P., Baudrand, R., & Adler, G. K. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00139 · Cited by 299
CLCN2 chloride channel mutations in familial hyperaldosteronism type II
Scholl, U. I., Stölting, G., Schewe, J., Thiel, A., Tan, H., Nelson-Williams, C., Vichot, A. A., Jin, S. C., Loring, E., Untiet, V., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0048-5 · Cited by 266
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Metadata
- Authors
- Scholl, U. I., Stölting, G., Nelson-Williams, C., Vichot, A. A., Choi, M., Loring, E., Prasad, M. L., Goh, G., Carling, T., Juhlin, C. C., Quack, I., Rump, L. C., Thiel, A., Lande, M., Frazier, B. G., Rasoulpour, M., Bowlin, D. L., Sethna, C. B., Trachtman, H., Fahlke, C., & Lifton, R. P.
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2015-04-24
- Volume
- 4
- Pages
- e06315-e06315
- ISSN
- 2050-084X (ISSN-L)
- OpenAlex
- W2120347052
- Cited by
- 358
- References
- 53
- FWCI
- 28.10
- Type
- journal article
- Language
- en
- Open access
- gold
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- Scholl, U. I., Stölting, G., Nelson-Williams, C., Vichot, A. A., Choi, M., Loring, E., Prasad, M. L., Goh, G., Carling, T., Juhlin, C. C., Quack, I., Rump, L. C., Thiel, A., Lande, M., Frazier, B. G., Rasoulpour, M., Bowlin, D. L., Sethna, C. B., Trachtman, H., . . . Lifton, R. P. (2015). Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. eLife. https://doi.org/10.7554/elife.06315
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