Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/content/pdf/10.1186/s12882-018-0825-5.pdf
Reference19 articles.
1. van den Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA, Rocchi M, et al. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet. 1992;2:99–102.
2. Bichet DG. V2R mutations and nephrogenic diabetes insipidus. Prog Mol Biol Transl Sci. 2009;89:15–29.
3. Fujimoto M, Imai K, Hirata K, Kashiwagi R, Morinishi Y, Kitazawa K, et al. Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. BMC Med Genet. 2008;9:42.
4. Nomura Y, Onigata K, Nagashima T, Yutani S, Mochizuki H, Nagashima K, et al. Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation. J Clin Endocrinol Metab. 1997;82:3434–7.
5. Broides A, Ault BH, Arthus MF, Bichet DG, Conley ME. Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region. Clin Immunol. 2006;120:147–55.
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