Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control

Abstract

Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused by genetic mutations in AVPR2 or AQP2 (1). AVPR2 is located at the Xq28 locus, and it encodes arginine vasopressin receptor 2 (AVPR2). Mutations in AVPR2 have been associated with X-linked NDI. AQP2 is located at the 12q13.12 locus, and it encodes the water transporter aquaporin-2. Mutations in AQP2 result in autosomal NDI. Here, we describe a male infant with a novel AVPR2 variant who was referred to our hospital due to delayed head control.