title: [Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].
abstract: OBJECTIVE
  To detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI).
  
  
  METHODS
  Clinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced.
  
  
  RESULTS
  The patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation.
  
  
  CONCLUSIONS
  The congenital NDI in the patient was probably due to mutation of the AVPR2 gene.
authors: Department of Endocrinology, Department of Nephrology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China. Email: wuchaoming2004@126.com.
authors: Zhijuan
authors: Z
authors: Dai
authors: Luya
authors: L
authors: Ruan
authors: Jian
authors: J
authors: Jin
authors: Yanying
authors: Y
authors: Qian
authors: Liang
authors: L
authors: Wang
authors: Zhen
authors: Z
authors: Shi
authors: Chaoming
authors: C
authors: Wu
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018500:Diabetes Insipidus, Nephrogenic / Q000151:congenital / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017483:Receptors, Vasopressin / Q000235:genetics*
chemical_list: C585768:AVPR2 protein, human; D017483:Receptors, Vasopressin