A case of congenital nephrogenic diabetes insipidus: his pedigree and clinical evaluation
10.3760/cma.j.issn.1000-6699.2011.11.013
- VernacularTitle:一例精氨酸加压素受体2基因突变的先天性肾性尿崩症患者的临床及家系研究
- Author:
Mingwei SHAO
;
Xuepei ZHANG
;
Danping WANG
;
Cunren CHEN
;
Sucai SONG
;
Xialian LI
- Publication Type:Journal Article
- Keywords:
Nephrogenic diabetes insipidus;
Arginine vasopressin receptor 2;
X-linked recessive inheritance;
Missense mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2011;27(11):922-924
- CountryChina
- Language:Chinese
-
Abstract:
A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.
