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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

28 de mayo de 2017
AQP2; AVPR2 gene; Heterozygous females; New mutations associated with DIN

In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene. • In rare occasions (10 %), it is caused by mutations in the AQP2 gene. What is new: • In this study, we report 10 novel mutations associated with NDI. • We have detected a high presence (50 %) of heterozygous carriers with clinical NDI symptoms.