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Int J Clin Exp Med 2011;4(1):1-9
Original Article
Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus
Sung-Dae Moon, Ju-Hee Kim, Joo-Yun Shim, Dong-Jun Lim, Bong-Yun Cha, Je-Ho Han
Department of Internal Medicine, Incheon St. Mary's Hospital, Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic
University of Korea, Seoul, Korea
Received October 29, 2010; accepted November 25, 2010; Epub November 30, 2010; published January 1, 2011
Abstract: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germ-line mutations
of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. Recent molecular studies have demonstrated that insensitivity of renal
tubule cells to AVP is associated with AVPR2 mutations. We identified a novel deletion mutation at nucleotide position 302 (302delC),
in a Korean NDI family, that results in a frameshift and a truncated receptor protein. To identify the mutant AVPR2 protein we developed
an expression vector for the AVPR2 mutation by a PCR-based restriction fragment replacement strategy. COS-7 cells were transiently
transfected with expression vectors for the wild-type and mutant genes, and we analyzed AVP-induced cyclic adenosine
monophosphate (cAMP) responses, and assessed the localization of AVPR2 receptors, in the transfected COS-7 cells. In the cells
expressing the mutant gene, the maximum AVP-induced cAMP response was reduced and the truncated receptor proteins were
retained within the cytoplasmic compartment. These results suggest that the novel frameshift AVPR2 (302delC) mutation is
responsible for the AVP resistance in the family with congenital NDI. (IJCEM1010001).
Keywords: Nephrogenic diabetes insipidus, vasopression, AVPR2, frameshift mutation
Full Text PDF
Address all correspondence to:
Dr. Je-Ho Han
Department of Internal Medicine
Incheon St. Mary’s Hospital
The Catholic University of Korea
#665 Bupyeong 6-dong, Bupyeong-gu
Incheon, 403-720 Korea.
Tel: 82-32-510-5500, Fax: 82-32-510-5683
E-mail: hjh60103@dreamwiz.com
Original Article
Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus
Sung-Dae Moon, Ju-Hee Kim, Joo-Yun Shim, Dong-Jun Lim, Bong-Yun Cha, Je-Ho Han
Department of Internal Medicine, Incheon St. Mary's Hospital, Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic
University of Korea, Seoul, Korea
Received October 29, 2010; accepted November 25, 2010; Epub November 30, 2010; published January 1, 2011
Abstract: Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germ-line mutations
of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. Recent molecular studies have demonstrated that insensitivity of renal
tubule cells to AVP is associated with AVPR2 mutations. We identified a novel deletion mutation at nucleotide position 302 (302delC),
in a Korean NDI family, that results in a frameshift and a truncated receptor protein. To identify the mutant AVPR2 protein we developed
an expression vector for the AVPR2 mutation by a PCR-based restriction fragment replacement strategy. COS-7 cells were transiently
transfected with expression vectors for the wild-type and mutant genes, and we analyzed AVP-induced cyclic adenosine
monophosphate (cAMP) responses, and assessed the localization of AVPR2 receptors, in the transfected COS-7 cells. In the cells
expressing the mutant gene, the maximum AVP-induced cAMP response was reduced and the truncated receptor proteins were
retained within the cytoplasmic compartment. These results suggest that the novel frameshift AVPR2 (302delC) mutation is
responsible for the AVP resistance in the family with congenital NDI. (IJCEM1010001).
Keywords: Nephrogenic diabetes insipidus, vasopression, AVPR2, frameshift mutation
Full Text PDF
Address all correspondence to:
Dr. Je-Ho Han
Department of Internal Medicine
Incheon St. Mary’s Hospital
The Catholic University of Korea
#665 Bupyeong 6-dong, Bupyeong-gu
Incheon, 403-720 Korea.
Tel: 82-32-510-5500, Fax: 82-32-510-5683
E-mail: hjh60103@dreamwiz.com
