Genetic diagnosis for a pedigree affected with hereditary nephrogenic diabetes insipidus / 中华医学遗传学杂志

ABSTRACT

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.