Journal article

Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.

Anatoly Tiulpakov, Carl W White, Rekhati S Abhayawardana, Heng B See, Audrey S Chan, Ruth M Seeber, Julian I Heng, Ivan Dedov, Nathan J Pavlos, Kevin DG Pfleger

Endocrinology | Published : 2016


Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a genetic disease first described in 2 unrelated male infants with severe symptomatic hyponatremia. Despite undetectable arginine vasopressin levels, patients have inappropriately concentrated urine resulting in hyponatremia, hypoosmolality, and natriuresis. Here, we describe and functionally characterize a novel vasopressin type 2 receptor (V2R) gain-of-function mutation. An L312S substitution in the seventh transmembrane domain was identified in a boy presenting with water-induced hyponatremic seizures at the age of 5.8 years. We show that, compared with wild-type V2R, the L312S mutation results in the constitutive production of..

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University of Melbourne Researchers