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Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: Two recurrent mutations, R137H and ΔV278, caused by the hypermutability at CpG dinucleotides

1998; Wiley; Volume: 11; Issue: S1 Linguagem: Inglês

10.1002/humu.1380110188

1098-1004

Yutaka Shoji, Tsutomu Takahashi, Yukiko Suzuki, Takashi Suzuki, Kazuo Komatsu, Hiyoshi Hirono, Yasuko Shoji, Takehiko Yokoyama, Hideyuki Kito, Goro Takada,

Childhood Cancer Survivors' Quality of Life

Human MutationVolume 11, Issue S1 p. S278-S283 Mutation in BriefFree Access Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: Two recurrent mutations, R137H and ΔV278, caused by the hypermutability at CpG dinucleotides Yutaka Shoji M.D., Corresponding Author Yutaka Shoji M.D. Department of Pediatrics, Akita University School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, Akita 010 JapanSearch for more papers by this authorTsutomu Takahashi, Tsutomu Takahashi Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorYukiko Suzuki, Yukiko Suzuki Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorTakashi Suzuki, Takashi Suzuki Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorKazuo Komatsu, Kazuo Komatsu Department of Pediatrics, Yuri General Hospital, Akita, JapanSearch for more papers by this authorHiyoshi Hirono, Hiyoshi Hirono Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorYasuko Shoji, Yasuko Shoji Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorTakehiko Yokoyama, Takehiko Yokoyama Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, JapanSearch for more papers by this authorHideyuki Kito, Hideyuki Kito Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, JapanSearch for more papers by this authorGoro Takada, Goro Takada Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this author Yutaka Shoji M.D., Corresponding Author Yutaka Shoji M.D. Department of Pediatrics, Akita University School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University School of Medicine, Hondo 1-1-1, Akita-shi, Akita 010 JapanSearch for more papers by this authorTsutomu Takahashi, Tsutomu Takahashi Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorYukiko Suzuki, Yukiko Suzuki Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorTakashi Suzuki, Takashi Suzuki Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorKazuo Komatsu, Kazuo Komatsu Department of Pediatrics, Yuri General Hospital, Akita, JapanSearch for more papers by this authorHiyoshi Hirono, Hiyoshi Hirono Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorYasuko Shoji, Yasuko Shoji Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this authorTakehiko Yokoyama, Takehiko Yokoyama Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, JapanSearch for more papers by this authorHideyuki Kito, Hideyuki Kito Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, JapanSearch for more papers by this authorGoro Takada, Goro Takada Department of Pediatrics, Akita University School of Medicine, Akita, JapanSearch for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110188Citations: 9AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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Tsukaguchi H, Matsubara H, Inada M (1995b) Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus. Kidney Int 48: 554– 562. Van-den-Ouweland AM, Dreesen JC, Verdijk M, Knoers NV, Monnens LA, Rocchi M, van-Oost BA (1992) Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet 2: 99– 102. Wenkert D, Merendino J, Shenker A, Thambi N, Robertson G, Moses A, Spiegel A (1994) Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. Hum Mol Genet 3: 1429– 1430. Wildin R, Antush M, Bennett R, Schoof J, Scott C (1994) Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet 55: 266– 277. Woodcock D, Crowther P, Diver W (1987) The majority of methylated deoxycytidines in human DNA are not in the CpG dinucleotide. Biochem Biophys Res Commun 145: 888– 894. Yokoyama K, Yamauchi A, Izumi M, Itoh T, Ando A, Imai E, Kamada T, Ueda N (1996) A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 7: 410– 414. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S278-S283 ReferencesRelatedInformation