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A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.
J Int Med Res. 2016 Oct; 44(5):1131-1137.JI

Abstract

Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 (AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C > G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband's mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene.

Authors+Show Affiliations

1 Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China.2 Department of General Surgery, Tianjin HaiHe Hospital, Tianjin, China.1 Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China.3 Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China.4 Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA.1 Department of Endocrinology, Tianjin Medical University General Hospital, Tianjin, China.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27565746

Citation

Guo, Wei-Hong, et al. "A Novel AVPR2 Gene Mutation of X-linked Congenital Nephrogenic Diabetes Insipidus in an Asian Pedigree." The Journal of International Medical Research, vol. 44, no. 5, 2016, pp. 1131-1137.
Guo WH, Li Q, Wei HY, et al. A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. J Int Med Res. 2016;44(5):1131-1137.
Guo, W. H., Li, Q., Wei, H. Y., Lu, H. Y., Qu, H. Q., & Zhu, M. (2016). A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. The Journal of International Medical Research, 44(5), 1131-1137. https://doi.org/10.1177/0300060516655642
Guo WH, et al. A Novel AVPR2 Gene Mutation of X-linked Congenital Nephrogenic Diabetes Insipidus in an Asian Pedigree. J Int Med Res. 2016;44(5):1131-1137. PubMed PMID: 27565746.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree. AU - Guo,Wei-Hong, AU - Li,Qiang, AU - Wei,Hong-Yan, AU - Lu,Hong-Yan, AU - Qu,Hui-Qi, AU - Zhu,Mei, Y1 - 2016/09/27/ PY - 2016/8/28/pubmed PY - 2017/6/1/medline PY - 2016/8/28/entrez KW - AVPR2 KW - missense mutation KW - nephrogenic diabetes insipidus SP - 1131 EP - 1137 JF - The Journal of international medical research JO - J Int Med Res VL - 44 IS - 5 N2 - Polyuria and polydipsia are the characteristics of congenital nephrogenic diabetes insipidus (CNDI). Approximately 90% of all patients with CNDI have X-linked hereditary disease, which is due to a mutation of the arginine vasopressin receptor 2 (AVPR2) gene. This case report describes a 54-year-old male with polyuria and polydipsia and several male members of his pedigree who had the same symptoms. The proband was diagnosed with diabetes insipidus using a water-deprivation and arginine vasopressin stimulation test. Genomic DNA from the patient and his family members was extracted and the AVPR2 gene was sequenced. A novel missense mutation of a cytosine to guanine transition at position 972 (c.972C > G) was found, which resulted in the substitution of isoleucine for methionine at amino acid position 324 (p.I324M) in the seventh transmembrane domain of the protein. The proband's mother and daughter were heterozygous for this mutation. The novel mutation of the AVPR2 gene further broadens the phenotypic spectrum of the AVPR2 gene. SN - 1473-2300 UR - https://www.unboundmedicine.com/medline/citation/27565746/A_novel_AVPR2_gene_mutation_of_X_linked_congenital_nephrogenic_diabetes_insipidus_in_an_Asian_pedigree_ L2 - https://journals.sagepub.com/doi/10.1177/0300060516655642?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -