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

Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus

1996 ◽  
Vol 98 (5) ◽  
pp. 587-589 ◽  
Author(s):  
Alexander Oksche ◽  
Andreas Möller ◽  
John Dickson ◽  
Werner Rosendahl ◽  
Wolfgang Rascher ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Vasopressin V2 Receptor ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
V2 Receptor

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 Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families

2002 ◽  
Vol 87 (6) ◽  
pp. 2694-2700 ◽  
Author(s):  
Shih-Hua Lin ◽  
Daniel G. Bichet ◽  
Sei Sasaki ◽  
Michio Kuwahara ◽  
Marie-Francoise Arthus ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Chinese Families ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Novel Mutations in Aquaporin-2 Gene in Female Siblings with Nephrogenic Diabetes Insipidus: Evidence of Disrupted Water Channel Function1

1998 ◽  
Vol 83 (9) ◽  
pp. 3205-3209
Author(s):  
Katsumi Goji ◽  
Michio Kuwahara ◽  
Yong Gu ◽  
Masafumi Matsuo ◽  
Fumiaki Marumo ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Water Channel ◽  
Novel Mutations ◽  
Aquaporin 2
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