A Novel Deletion Mutation in the Arginine Vasopressin Receptor 2 Gene and Skewed X Chromosome Inactivation in a Female Patient with Congenital Nephrogenic Diabetes Insipidus
|Title:||A Novel Deletion Mutation in the Arginine Vasopressin Receptor 2 Gene and Skewed X Chromosome Inactivation in a Female Patient with Congenital Nephrogenic Diabetes Insipidus|
|Authors:||Kinoshita, K.; Miura, MD, PhD, Yoshitaka; Nagasaki, H.; Murase, T.; Bando, Y.; Oiso, MD, PhD, Yutaka|
|Publisher:||Journal of Endocrinological Investigation|
|Date Published:||February 01, 2004|
This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
Occasionally, however, females can experience congenital NDI. This generally occurs when they have a mutated V2R gene on one X chromosome non-random inactivation of the X chromosome that bears the normal V2R gene. Kinoshita, et al., report such a case. They examined a 51 year old Japanese woman and her sons. Her two sons were diagnosed with NDI at the age of 1 year and 10 days, respectively. The mother first showed signs of NDI during her pregnancy at age 25. Her symptoms were mild. She received gynecological surgery at age 51 and afterwards experienced more severe symptoms of NDI. The reason for this is unclear. However, she currently experiences mild symptoms and is being treated with occasional use of indomethacin.
The nature of her and her sons’ V2R gene mutation resulted in a V2R protein that is truncated. That is, it is missing a significant part of its normal length. This mutant V2R would most likely not be able to reach the cell membrane where it must be if it is to perform its function.