Response to Letter to the Editor: “Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

We thank Drs. Giuseppa Patti and Mohamad Maghnie for their interest in our article. We appreciate the clinical and genetic results reported from their studies in patients diagnosed of central diabetes insipidus who had variants in the AVP-NPII gene. This letter adds new information about some variants in the AVP-NPII gene that we found in our cohort of Spanish patients and the effects on their phenotype. We consider that this information completes our clinical-genetic study.

Regarding the p.Ser18del variant, we have added Tian et al. (1) as the reference as it was based on the Human Gene Mutation Database (www.hgmd.cf.ac.uk) in which 4 articles describing the deletion were reported. However, the article of Perrotta et al. (2). does not appear in OMIM (https://omim.org/), Uniprot (www.uniprot.org/uniprot/P01185), and other databases that we checked. On the other hand, functional studies carried out by Toustrup et al. demonstrated that the p.Ser18del variant resulted in partial protein retention in the endoplasmic reticulum (3). Thus, the ability to eliminate the mutant protein by the cell and, therefore, the intracellular transport of prepro-vasopressin through the endoplasmic reticulum, may be more limited in the patient with the p.Ser18del variant reported by Perrotta et al. (2).

Acknowledgments

Financial Support: This study was supported by 2 grants from the Department of Health (2017111014 and 2018111097) and one grant from the Department of Education (IT1281-19) of the Basque Government. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Additional Information

Disclosure Summary: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

References

Author notes