Mutational Analyses of AVPR2 Gene in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus: Two Recurrent Mutations, R137H and 
V278, Caused by the Hypermutability at CpG D
| Title: | Mutational Analyses of AVPR2 Gene in Three Japanese Families with X-Linked Nephrogenic Diabetes Insipidus: Two Recurrent Mutations, R137H and V278, Caused by the Hypermutability at CpG D |
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| Authors: | Shoji, Yasuko; Takahashi, Tsutomu; Suzuki, Yukiko; Suzuki, Takashi; Komatsu, Kazuo; Hirono, Hiyoshi; Shoji, M.D., Yutaka; Yokoyama, Takehiko; Kito, Hideyuki; Takada, Goro |
| Publisher: | Human Mutation |
| Date Published: | 1998 |
| Reference Number: | 158 |
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This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
Shoji, et al., analyzed the arginine vasopressin 2 receptor (AVPR2) gene in three unrelated Japanese families with NDI. In one family they found a mutation that has not previously been reported in the literature. The mutation is a L309P mutation and occurred in the seventh transmembrane of the V2R. (Please look at a schematic representation of the V2R.) They identified a R137H mutation and a V278 mutation in the two NDI patients of the second family. This R137H mutation has been found in three unrelated North American Caucasian families. The V278 mutation has been found in a Sardinian family and a Japanese family unrelated to the authors' subjects. The researchers found a R137H mutation in the fourth family.