What are the genetic causes of diabetes insipidus (DI)?

Updated: Mar 18, 2020
  • Author: Romesh Khardori, MD, PhD, FACP; Chief Editor: George T Griffing, MD  more...
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Answer

There are also autosomal recessive forms of DI, which result from defects in the AVP-NP2 (AVP neurophysin) gene, as well as in the WFS1 gene. The latter gene encodes for wolframin, a tetrameric protein that may serve as a novel endoplasmic reticular calcium channel in pancreatic beta cells and neurons. Mutations in WFS1 lead to Wolfram syndrome, which is also known by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness). [18]

Another recessive form of central DI results from the production of biologically inactive AVP. In addition, an X-linked form of neurohypophyseal DI exists. A specific genetic defect has not been identified. [3]

Genetic testing to determine the specific etiology can obviate the search for another cause. [3] Finding a genetic anomaly will also answer recurrence risk questions for the family, and may prove to be helpful with treatment options.


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