Autosomal Recessive Inheritance of Vasopressin-Resistant Diabetes Insipidus
| Title: | Autosomal Recessive Inheritance of Vasopressin-Resistant Diabetes Insipidus |
|---|---|
| Authors: | Langley, J.M.; Balfe, J.W.; Selander, T.; Ray, P.N.; Clarke, J.T.R. |
| Publisher: | American Journal of Medical Genetics |
| Date Published: | January 01, 1991 |
| Reference Number: | 331 |
We report on 2 intellectually normal sisters with vasopressin-resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of inheritance of an autosomal recessive mutation affecting renal tubular water reabsorption. The results of DNA analysis of the DXS52 locus with the use of St14 as probe, shown by Knoers et al. [1988] to be tightly linked to the NDI locus on the X-chromosome, showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X-linked NDI.
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)
In this instance, however, it was two girls who had NDI. They expressed its symptoms in the first week of life. Their brother was unaffected by NDI. The authors analyzed the family members' X chromosomes and found the two sisters each had inherited different Xq28 regions of their mother's X chromosomes. Also, the unaffected brother had inherited the same Xq28 region of his mother's chromosome as one of his affected sisters, but not the others. The Xq28 region is the site on the X chromosome where the gene is located that, when mutated, causes NDI.
This finding, plus the fact that the sisters' parents were related by blood and had no trouble concentrating their urine suggests that the sisters' NDI was inherited in an autosomal recessive mode. This indicates that there is another gene besides the gene of the X chromosome that, when mutated, can cause NDI.