Mutations in the vasopressin receptor 2 gene are responsible for x-linked nephrogenic diabetes insipidus.
The AVPR2 gene encoding the arginine vasopressin receptor 2 is located on the X chromosome (Xq28). It spans about 2.2kb and consists of 3 exons.
The ADH receptor (V2) was predominantly investigated in kidney's collecting duct cells, where it regulates vasopressin dependent urine concentration. Physiological investigations in patients with or without known defects of vasopressin receptor 2 (V2) suggest that this receptor plays a role in secretion of coagulation factors and vasodilatation and that cells other than collecting duct epithelia carry this receptor.
Mutations in the AVPR2 gene lead to nephrogenic diabetes insipidus transmitted in an x-lined fashion. This means in each affected family males show a marked polyuria while females are predominantly asymptomatic. They may become symptomatic however during pregnancy when the placenta releases vasopressinase which reduces the plasma vasopressin level.
Several different physiological functions are regulated by this receptor among them water excretion, secretion of coagulation factors and vasodilatation.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Fujiwara TM et al. (2005) Molecular biology of hereditary diabetes insipidus. |
2. |
Nguyen MK et al. (2003) Molecular pathogenesis of nephrogenic diabetes insipidus. |
3. |
Noda Y et al. (2005) Trafficking mechanism of water channel aquaporin-2. |
4. |
Gade W et al. (2006) A brief survey of aquaporins and their implications for renal physiology. |
5. |
Orphanet article Orphanet ID 118947 |
6. |
NCBI article NCBI 554 |
7. |
OMIM.ORG article Omim 300538 |
8. |
Wikipedia article Wikipedia EN (Vasopressin_receptor_2) |