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

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

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 promis...

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Bibliographic Details
Main Authors: Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, Alfred A Vichot, Murim Choi, Erin Loring, Manju L Prasad, Gerald Goh, Tobias Carling, C Christofer Juhlin, Ivo Quack, Lars C Rump, Anne Thiel, Marc Lande, Britney G Frazier, Majid Rasoulpour, David L Bowlin, Christine B Sethna, Howard Trachtman, Christoph Fahlke, Richard P Lifton
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2015-04-01
Series:eLife
Subjects:
adrenal gland
CaV3.2
voltage-gated calcium channel
exome sequencing
incomplete penetrance
de novo mutation
Online Access:https://elifesciences.org/articles/06315

Internet

https://elifesciences.org/articles/06315

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