Article
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.
Cold Spring Harbor molecular case studies - 1 Nov 2016
Polfus Linda M, Boerwinkle Eric, Gibbs Richard A, Metcalf Ginger, Muzny Donna, Veeraraghavan Narayanan, Grove Megan, Shete Sanjay, Wallace Stephanie, Milewicz Dianna, Hanchard Neil, Lupski James R, Hashmi Syed Shahrukh, Gupta-Malhotra Monesha
Abstract excerpt
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of...
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