Genetic diagnosis for a pedigree affected with hereditary nephrogenic diabetes insipidus

Objective To explore the genetic basis for pedigree affected with hereditary nephrogenic diabetes insipidus (HNDI). Methods Next generation sequencing (NGS) with an osteology system gene panel was carried out for the proband. Suspected mutation was validated by Sanger sequencing of two relatives with similar symptoms and two unaffected relatives from the pedigree. Results The proband was found to carry a c. 856C>T mutation of the AVPR2 gene. The same mutation was detected in the two relatives with similar symptoms and one unaffected healthy relative. Conclusion The HNDI in this pedigree may be attributed to the c. 856C>T mutation of the AVPR2 gene. Key words: Hereditary nephrogenic diabetes insipidus; AVPR2 gene; Mutation