Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus

1994 ◽  
Vol 79 (2) ◽  
pp. 361-365 ◽  
Author(s):  
H. Yuasa
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
Novel Mutations ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Vasopressin Receptor

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus

1994 ◽  
Vol 3 (8) ◽  
pp. 1429-1430 ◽  
Author(s):  
David Wenkert ◽  
John J. Merendino ◽  
Andrew Shenker ◽  
Nina Thambl ◽  
Gary L. Robertson ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
Novel Mutations ◽  
V2 Vasopressin Receptor

scholarly journals A Novel Mutation in the V2 Vasopressin Receptor Gene in Two Siblings with Nephrogenic Diabetes Insipidus

1995 ◽  
Vol 4 (1) ◽  
pp. 33-37
Author(s):  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Mari Murashita ◽  
Nozomi Shinohara ◽  
Kenji Yuri ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
V2 Vasopressin Receptor

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

1992 ◽  
Vol 2 (2) ◽  
pp. 103-106 ◽  
Author(s):  
Yang Pan ◽  
Aida Metzenberg ◽  
Soma Das ◽  
Biqi Jing ◽  
Jane Gitschier
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Vasopressin Receptor ◽  
V2 Vasopressin Receptor

scholarly journals Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

2005 ◽  
Vol 20 (6) ◽  
pp. 1076 ◽  
Author(s):  
Hae Il Cheong ◽  
Su Jin Cho ◽  
Shou Huan Zheng ◽  
Hee Yeon Cho ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

1997 ◽  
Vol 8 (12) ◽  
pp. 1855-1862 ◽  
Author(s):  
R Vargas-Poussou ◽  
L Forestier ◽  
M D Dautzenberg ◽  
P Niaudet ◽  
M Déchaux ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Single Strand Conformational Polymorphism ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Receptor ◽  
Aqp2 Gene

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by renal tubular insensitivity to the antidiuretic effect of arginine vasopressin (AVP). In a large majority of the cases, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutations in the AVP V2 receptor gene (AVPR2). In the remaining cases, the disease is autosomal recessive or dominant and, for these patients, mutations in the aquaporin 2 gene (AQP2) have been reported. Fourteen probands belonging to 12 families were analyzed by single-strand conformational polymorphism and direct sequencing of the AVPR2 and AQP2 genes. Ten mutations of the AVPR2 gene (six previously reported mutations and four novel mutations: G107E, W193X, L43P, and 15delC) were identified. Three mutations of the AQP2 gene were also identified in two patients: the first patient is homozygous for the R85X mutation and the second is a compound heterozygote for V168 M and S216P mutations. Extrarenal responses to infusion of the strong V2 agonist 1-desamino-8-D-arginine vasopressin allowed AVPR2- and AQP2-associated forms of CNDI to be distinguished in three patients. This test also identified an unexpectedly high urinary osmolality (614 mosmol/kg) in a patient with a P322S mutation of AVPR2 gene and a mild form of CNDI.

scholarly journals SP011CHARACTERIZATION OF NOVEL MUTATIONS IN ARGININE VASOPRESSIN RECEPTOR 2 GENE (AVRP2) CAUSING NEPHROGENIC DIABETES INSIPIDUS

2018 ◽  
Vol 33 (suppl_1) ◽  
pp. i350-i351
Author(s):  
Federica Prosperi ◽  
Vincenzo Costanzo ◽  
Anna Iervolino ◽  
Federica Petrillo ◽  
Luigi De la Motte ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Vasopressin Receptor ◽  
Novel Mutations
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