Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family

• Main Authors: Shusen Guo (Author), Shimin Wu (Author), Zhuxi Li (Author), Lianjing Huang (Author), Di Zhan (Author), Cai Zhang (Author), Xiaoping Luo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: 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). Functional analysis of the mutated receptor is necessary to verify the impact of the mutation on receptor function an...