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Zucker School of Medicine at Hofstra/Northwell
CaV3.2;; adrenal gland;; chromosomes;; de novo mutation;; exome sequencing;; genes;; human;; human biology;; incomplete penetrance;; medicine;; voltage-gated calcium channel
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Full-Text Articles in Medicine and Health Sciences
Recurrent Gain Of Function Mutation In Calcium Channel Cacna1h Causes Early-Onset Hypertension With Primary Aldosteronism, U. I. Scholl, G. Stolting, C. Nelson-Williams, A. A. Vichot, M. Choi, E. Loring, M. L. Prasad, G. Goh, C. B. Sethna, R. P. Lifton, +11 Additional Authors
Recurrent Gain Of Function Mutation In Calcium Channel Cacna1h Causes Early-Onset Hypertension With Primary Aldosteronism, U. I. Scholl, G. Stolting, C. Nelson-Williams, A. A. Vichot, M. Choi, E. Loring, M. L. Prasad, G. Goh, C. B. Sethna, R. P. Lifton, +11 Additional Authors
Journal Articles
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 CACNA1H(M1549V) mutation. Two mutations were demonstrated to be de novo events, and all mutations …