A Novel V2 Vasopressin Receptor Mutation with X-Linked Nephrogenic Diabetes Insipidus

Congenital nephrogenic diabetes insipidus (NDI) is caused by at least two different genes: the V2 receptor for arginine vasopressin (AVP) in X-linked NDI, and aquaporin-2 (AQP2) in autosomal recessive NDI (1–5). So far, more than 100 mutations have been reported (1, 3, 5, 6). Identification of the mutation of the V2 receptor is useful for early definite diagnosis and an understanding of the pathophysiology of Xlinked NDI. Here we report the identification of a novel insertion mutation of the V2 receptor gene in a patient with X-linked NDI.