Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

doi:10.7554/eLife.06315

Article

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

eLife - 24 Apr 2015

Scholl Ute I, Stölting Gabriel, Nelson-Williams Carol, Vichot Alfred A, Choi Murim, Loring Erin, Prasad Manju L, Goh Gerald, Carling Tobias, Juhlin C Christofer, Quack Ivo, Rump Lars C, Thiel Anne, Lande Marc, Frazier Britney G, Rasoulpour Majid, Bowlin David L, Sethna Christine B, Trachtman Howard, Fahlke Christoph, Lifton Richard P

Abstract excerpt

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 pro...

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Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

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