Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree

Abstract Background It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. Methods An NDI pedigree was included in this study, inclu...

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Bibliographic Details
Main Authors: Ying Bai, Yibing Chen, Xiangdong Kong
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Nephrology
Subjects:
Nephrogenic diabetes insipidus
AVPR2
Deletion
Genetic diagnosis
Online Access:http://link.springer.com/article/10.1186/s12882-018-0825-5

Internet

http://link.springer.com/article/10.1186/s12882-018-0825-5

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