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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.<\/jats:p>","DOI":"10.7554\/elife.06315","type":"journal-article","created":{"date-parts":[[2015,4,24]],"date-time":"2015-04-24T05:08:34Z","timestamp":1429852114000},"source":"Crossref","is-referenced-by-count":322,"title":["Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism"],"prefix":"10.7554","volume":"4","author":[{"given":"Ute I","family":"Scholl","sequence":"first","affiliation":[{"name":"Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States"},{"name":"Division of Nephrology, Heinrich Heine University D\u00fcsseldorf, D\u00fcsseldorf, 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