Tags

Type your tag names separated by a space and hit enter

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
J Hum Genet. 2002; 47(2):66-73.JH

Abstract

Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration. The X-linked NDI is associated with mutations of the arginine vasopressin receptor type 2 (AVPR2) gene, which results in resistance to the antidiuretic action of arginine vasopressin (AVP) in the renal tubules and collecting ducts. Identification of mutations in the AVPR2 gene can facilitate early diagnosis of NDI, which can prevent serious complications such as growth retardation and mental retardation. We analyzed three unrelated Chinese NDI families and identified three mutations: R106C, F287L, and R337X. In addition, an A/G polymorphism at cDNA nucleotide position 927 (codon 309L) was identified. A functional expression assay of the R106C and F287L mutants in COS-7 cells revealed that both mutants show significant dysfunction and accumulate intracellular cyclic adenosine monophosphate in response to AVP hormone stimulation. These results facilitate the diagnosis of NDI at the molecular level in the Chinese population, and provide insight into the molecular pathology of NDI.

Authors+Show Affiliations

Department of Psychiatry, Tzu-Chi General Hospital and Tzu-Chi University, Hualien City, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11916004

Citation

Chen, Chia-Hsiang, et al. "Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene Causing Nephrogenic Diabetes Insipidus in Chinese Patients." Journal of Human Genetics, vol. 47, no. 2, 2002, pp. 66-73.
Chen CH, Chen WY, Liu HL, et al. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. J Hum Genet. 2002;47(2):66-73.
Chen, C. H., Chen, W. Y., Liu, H. L., Liu, T. T., Tsou, A. P., Lin, C. Y., Chao, T., Qi, Y., & Hsiao, K. J. (2002). Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. Journal of Human Genetics, 47(2), 66-73.
Chen CH, et al. Identification of Mutations in the Arginine Vasopressin Receptor 2 Gene Causing Nephrogenic Diabetes Insipidus in Chinese Patients. J Hum Genet. 2002;47(2):66-73. PubMed PMID: 11916004.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. AU - Chen,Chia-Hsiang, AU - Chen,Wen-Yu, AU - Liu,Hui-Lin, AU - Liu,Tze-Tze, AU - Tsou,Ann-Ping, AU - Lin,Ching-Yuang, AU - Chao,Ting, AU - Qi,Yu, AU - Hsiao,Kwang-Jen, PY - 2002/3/28/pubmed PY - 2002/5/22/medline PY - 2002/3/28/entrez SP - 66 EP - 73 JF - Journal of human genetics JO - J. Hum. Genet. VL - 47 IS - 2 N2 - Congenital nephrogenic diabetes insipidus (NDI) is, in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration. The X-linked NDI is associated with mutations of the arginine vasopressin receptor type 2 (AVPR2) gene, which results in resistance to the antidiuretic action of arginine vasopressin (AVP) in the renal tubules and collecting ducts. Identification of mutations in the AVPR2 gene can facilitate early diagnosis of NDI, which can prevent serious complications such as growth retardation and mental retardation. We analyzed three unrelated Chinese NDI families and identified three mutations: R106C, F287L, and R337X. In addition, an A/G polymorphism at cDNA nucleotide position 927 (codon 309L) was identified. A functional expression assay of the R106C and F287L mutants in COS-7 cells revealed that both mutants show significant dysfunction and accumulate intracellular cyclic adenosine monophosphate in response to AVP hormone stimulation. These results facilitate the diagnosis of NDI at the molecular level in the Chinese population, and provide insight into the molecular pathology of NDI. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/11916004/Identification_of_mutations_in_the_arginine_vasopressin_receptor_2_gene_causing_nephrogenic_diabetes_insipidus_in_Chinese_patients_ L2 - https://biocyc.org/gene?orgid=HUMAN&id=HS05059 DB - PRIME DP - Unbound Medicine ER -