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A novel somatic mutation 145–147delETEinsK in KCNJ5 increases aldosterone production

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References

  1. Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 2011; 331: 768–772.

    Article  CAS  Google Scholar 

  2. Zheng FF, Zhu LM, Nie AF, Li XY, Lin JR, Zhang K et al. Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma. Hypertension 2015; 65: 622–628.

    Article  CAS  Google Scholar 

  3. Lenzini L, Rossitto G, Maiolino G, Letizia C, Funder JW, Rossi GP . A meta-analysis of somatic KCNJ5 K(+) channel mutations in 1636 patients with an aldosterone-producing adenoma. J Clin Endocrinol Metab 2015; 100: E1089–E1095.

    Article  Google Scholar 

  4. Williams TA, Lenders JW, Burrello J, Beuschlein F, Reincke M . KCNJ5 mutations: sex, salt and selection. Horm Metab Res 2015; 47: 953–958.

    Article  CAS  Google Scholar 

  5. Dutta RK, Söderkvist P, Gimm O . Genetics of primary hyperaldosteronism. Endocr Relat Cancer 2016; 23: R437–R454.

    Article  CAS  Google Scholar 

  6. Oki K, Plonczynski MW, Luis Lam M, Gomez-Sanchez EP, Gomez-Sanchez CE . Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis. Endocrinology 2012; 153: 1774–1782.

    Article  CAS  Google Scholar 

  7. Murthy M, Xu S, Massimo G, Wolley M, Gordon RD, Stowasser M et al. Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism. Hypertension 2014; 63: 783–789.

    Article  CAS  Google Scholar 

  8. Roux B . Ion conduction and selectivity in K(+) channels. Annu Rev Biophys Biomol Struct 2005; 34: 153–171.

    Article  CAS  Google Scholar 

  9. Tauber P, Penton D, Stindl J, Humberg E, Tegtmeier I, Sterner C et al. Pharmacology and pathophysiology of mutated KCNJ5 found in adrenal aldosterone-producing adenomas. Endocrinology 2014; 155: 1353–1362.

    Article  CAS  Google Scholar 

  10. Kuppusamy M, Caroccia B, Stindl J, Bandulik S, Lenzini L, Gioco F et al. A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium. J Clin Endocrinol Metab 2014; 99: E1765–E1773.

    Article  CAS  Google Scholar 

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Acknowledgements

The study was funded by grants from Youth Program (81500324) and State Key Program (81230071, 91539202) of the National Natural Science foundation of China; Shanghai Municipal Health Bureau (20134109).

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Correspondence to P-J Gao.

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The authors declare no conflict of interest.

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Supplementary Information accompanies this paper on the Journal of Human Hypertension website

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Zheng, FF., Zhu, LM., Zhou, WL. et al. A novel somatic mutation 145–147delETEinsK in KCNJ5 increases aldosterone production. J Hum Hypertens 31, 756–759 (2017). https://doi.org/10.1038/jhh.2017.50

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