Analysis of Vasopressin Receptor Type 2(AVPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus : Identification of a Family with R202C Mutation in AVPR2 Gene
1Department of Pediatrics, Seoul Municipal Boramae Hospital 2Department of Pediatrics, Seoul Municipal Boramae Hospital 3Department of Pediatrics, Seoul Municipal Boramae Hospital 4College of Molecular Cytology, Joongang University 5Department of Pediatrics, Seoul National University, College of Medicine 6Department of Pediatrics, Seoul National University, College of Medicine 7Department of Pediatrics, Seoul National University, College of Medicine 8Department of Pediatrics, Seoul National University, College of Medicine 9Department of Pediatrics, Seoul Municipal Boramae Hospital
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ABSTRACT
Purpose : Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). The hypothesis that the defect underlying NDI might be a dysfunctional renal AVPR2 has recently been proven by the identification of mutations in the AVPR2 gene in NDT patients. To investigate the association of mutations in th AVPR2 gene with NDI, we analyzed the AVPR2 gene located on the X chromosome. Methods : We have analyzed the AVPR2 gene in a kindred with X-linked NDI. The proband and proband's mother were analyzed by polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP) and DNA sequencing of the AVPR2 gene. We also have used restriction enzyme analysis of genomic PCR product to evaluate the AVPR2 gene. Results : C to T transition at codon 202, predictive of an exchange of tryptophan 202 by cysteine(R202C) in the third extracellular domain was identified. This mutation causes a loss of Hae III site within the gene. Conclusion : We found a R202C missense mutation in the AVPR2 gene causing X-linked NDI, and now direct mutational analysis is available for carrier screening and early diagnosis.
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