1998 Global Conference Proceeding

March 02 - 04, 1998

Line
Conference: 1998 Global Conference
Title: Nephrogenic Diabetes Insipidus Mutation Database
Authors: Fujiwara, T. Mary; Turner, Maria S.; Crumley, M. Joyce; Arthus, Marie-Francoise; Lonergan, Michele; Morgan, Kenneth; Bichet, Daniel G.
Institutions: Montreal General Hospital, Hopital du Sacre-Coeur de Montreal et Universite de Montreal, Montreal General Hospital Research Institute, Hopital du Sacre-Coeur de Montreal
Line
Abstract • Translation
Maria Turner

We have developed a database for mutations in the arginine-vasopressin receptor 2 (AVPR2) gene that cause X-linked nephrogenic diabetes insipidus (NDI). Information on mutations can be retrieved by name of the mutation, type of mutation (e.g., missense, nonsense, or frameshift deletion), location in gene or V2 receptor, or by the ethnicity or family identification noted in publications. The ancestral origin of new mutations is recorded where known. In addition, we reviewed published expression studies and included information on the cell system in which the mutant receptor was expressed, functional classification of the mutation (e.g., transport-deficient, binding-deficient, or synthesis-deficient), and a brief summary of the data. The NDI database contains information on 84 different putative disease-causing mutations and 10 benign amino acid or sequence variants. Information from the database will be available on the World Wide Web and accessible via the Internet. Our goal is to make information on NDI readily available in order to facilitate early molecular diagnosis and carrier testing, and for research on structure-function relationships. We plan to expand the NDI database to include information on mutations in the gene that encodes the water channel aquaporin-2, that also cause nephrogenic diabetes insipidus. We welcome suggestions, corrections, and contributions of additional information from investigators.

Supported in part by the Canadian Genetic Diseases Network, the Fonds de la Recherche en Santé/Hydro-Québec, the Kidney Foundation of Canada, and the Medical Research Council of Canada.

There is now a computerized database for mutations in the arginine-vasopressin receptor 2 (AVPR2) gene that cause X-linked nephrogenic diabetes insipidus (NDI). Mutations are categorized by name, type, location in the gene or V2 receptor, and, if it was given in the published studies, the ethnicity of the NDI patient. The ancestral origin of new mutations is given when known. Further, the database includes information on mutations that have been studied in experimental cell systems and are grouped according to how they fail to perform. Currently, the database contains information on 84 different mutations believed to cause NDI and ten benign amino acid or sequence variants (mutations) that do not cause disease.