title: Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.
abstract: Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.
authors: Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.
authors: Myo-Jing
authors: MJ
authors: Kim
authors: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Young-Eun
authors: YE
authors: Kim
authors: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Chang-Seok
authors: CS
authors: Ki
authors: Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.
authors: Jae-Ho
authors: JH
authors: Yoo
keywords: Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein; Human
references: Semin Nephrol. 2006 May;26(3):209-23
references: 16713494
references: J Pediatr. 1982 Jan;100(1):76-81
references: 7057320
references: Ann Clin Lab Sci. 2008 Winter;38(1):12-4
references: 18316776
references: J Clin Invest. 1991 Feb;87(2):725-8
references: 1840604
references: Mol Genet Metab. 2005 Sep-Oct;86(1-2):307-13
references: 16006166
references: J Biol Chem. 1985 Aug 25;260(18):10236-41
references: 2991279
references: Arch Dis Child. 1998 Jul;79(1):84-9
references: 9771260
references: Kidney Int. 1976 Jul;10(1):25-37
references: 181630
references: Horm Res. 2009;71(2):111-9
references: 19129716
references: J Clin Endocrinol Metab. 1992 Apr;74(4):795-800
references: 1548343
references: Eur J Endocrinol. 2011 Jul;165(1):161-5
references: 21498630
references: J Biol Chem. 2001 Aug 10;276(32):29671-80
references: 11395505
references: Eur J Hum Genet. 2004 Jan;12(1):44-51
references: 14673472
references: Eur J Endocrinol. 2010 Feb;162(2):221-6
references: 19897608
references: Eur J Endocrinol. 2001 Oct;145(4):439-44
references: 11581002
references: Am J Hum Genet. 1996 Jan;58(1):107-17
references: 8554046