Clinical and Functional Characterization of a novel mutation in AVPR2 causing Nephrogenic Diabetes Insipidus in a four-generation Chinese family

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease that is caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). Next-generation sequencing identified a novel mutation in AVPR2 gene (c.530T>A) in a Chinese family