Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus

ConclusionIn the first and largest case series of NDI caused byAVPR2 mutations in Chinese population, we established genetic profile and characterized clinical data, reporting six novel mutations. Further, we found genotype was associated with phenotype. This knowledge broadens genotype and phenotype spectrum of rare congenital NDI caused byAVPR2 mutations, and provides basis for studying molecular biology of AVPR2.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research