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Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
J Am Soc Nephrol. 2000 Jun; 11(6):1044-54.JA

Abstract

X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2). Thirty-three novel AVPR2 mutations were identified in 62 families that were not included in our previous studies. This study describes the diversity of mutations observed in a total of 117 families, the number of affected people at the time of diagnosis, skewed X chromosome inactivation in severely affected females, the inferred parental origin of de novo mutations, and it provides estimates of incidence. Among 117 families, there were 82 different putative disease-causing mutations. Based on haplotype analysis, it can be inferred that when the same AVPR2 mutation is identified in different families that were not known to be related, the mutations most likely arose independently. More than half of the families had only one affected male; two families presented with a severely affected female and no family history of NDI. A de novo mutation arose during oogenesis in the mother in 20% of isolated cases. The estimate of about 8.8 per million male live births of the incidence of X-linked NDI in the province of Quebec, Canada may be representative of the general population except in Nova Scotia and New Brunswick, where the incidence is more than six times higher. Documentation of the diversity of mutations will assist in revealing the full spectrum of clinical variation. Discussion of genetic and population genetic aspects of X-linked NDI may contribute to early diagnosis and treatment.

Authors+Show Affiliations

Department of Medicine, Université de Montréal and Research Centre, Hôpital du Sacré-Coeur de Montréal, Montreal, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo 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)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10820168

Citation

Arthus, M F., et al. "Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families With X-linked Nephrogenic Diabetes Insipidus." Journal of the American Society of Nephrology : JASN, vol. 11, no. 6, 2000, pp. 1044-54.
Arthus MF, Lonergan M, Crumley MJ, et al. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol. 2000;11(6):1044-54.
Arthus, M. F., Lonergan, M., Crumley, M. J., Naumova, A. K., Morin, D., De Marco, L. A., Kaplan, B. S., Robertson, G. L., Sasaki, S., Morgan, K., Bichet, D. G., & Fujiwara, T. M. (2000). Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. Journal of the American Society of Nephrology : JASN, 11(6), 1044-54.
Arthus MF, et al. Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families With X-linked Nephrogenic Diabetes Insipidus. J Am Soc Nephrol. 2000;11(6):1044-54. PubMed PMID: 10820168.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. AU - Arthus,M F, AU - Lonergan,M, AU - Crumley,M J, AU - Naumova,A K, AU - Morin,D, AU - De Marco,L A, AU - Kaplan,B S, AU - Robertson,G L, AU - Sasaki,S, AU - Morgan,K, AU - Bichet,D G, AU - Fujiwara,T M, PY - 2000/5/23/pubmed PY - 2000/8/12/medline PY - 2000/5/23/entrez SP - 1044 EP - 54 JF - Journal of the American Society of Nephrology : JASN JO - J. Am. Soc. Nephrol. VL - 11 IS - 6 N2 - X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2). Thirty-three novel AVPR2 mutations were identified in 62 families that were not included in our previous studies. This study describes the diversity of mutations observed in a total of 117 families, the number of affected people at the time of diagnosis, skewed X chromosome inactivation in severely affected females, the inferred parental origin of de novo mutations, and it provides estimates of incidence. Among 117 families, there were 82 different putative disease-causing mutations. Based on haplotype analysis, it can be inferred that when the same AVPR2 mutation is identified in different families that were not known to be related, the mutations most likely arose independently. More than half of the families had only one affected male; two families presented with a severely affected female and no family history of NDI. A de novo mutation arose during oogenesis in the mother in 20% of isolated cases. The estimate of about 8.8 per million male live births of the incidence of X-linked NDI in the province of Quebec, Canada may be representative of the general population except in Nova Scotia and New Brunswick, where the incidence is more than six times higher. Documentation of the diversity of mutations will assist in revealing the full spectrum of clinical variation. Discussion of genetic and population genetic aspects of X-linked NDI may contribute to early diagnosis and treatment. SN - 1046-6673 UR - https://www.unboundmedicine.com/medline/citation/10820168/Report_of_33_novel_AVPR2_mutations_and_analysis_of_117_families_with_X_linked_nephrogenic_diabetes_insipidus_ L2 - http://jasn.asnjournals.org/cgi/pmidlookup?view=long&pmid=10820168 DB - PRIME DP - Unbound Medicine ER -