What is the gene location, chromosome number, and locus of the gene responsible for inherited DI?
The gene involved in familial DI depends on which type of DI it is. In CDI, the mutation is usually in the gene that directs the production of vasopressin and two associated proteins. This gene is on chromosome 20. However there is another type of familial CDI that is due to a recessive mutation in an as yet unidentified gene located on the x-chromosome. This type of CDI affects only males, but can be carried by females. In NDI, the mutation is either a gene on the x-chromosome that encodes the vasopressin receptor on in a different gene on an autosome that encodes a protein known as aquaporin that forms water channels in the kidney. In familial dipsogenic DI, we do not have any information yet as to which gene or genes are responsible.
