Ann Pediatr Endocrinol Metab.  2014 Dec;19(4):220-224. 10.6065/apem.2014.19.4.220.

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

• Kim MJ
• Kim YE
• Ki CS
• Yoo JH

• KMID: 1769356
• DOI: http://doi.org/10.6065/apem.2014.19.4.220

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.

Keyword

Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein ; Human

MeSH Terms

Arginine Vasopressin
Diabetes Insipidus, Neurogenic*
Exons
Family Characteristics*
Humans
Korea
Mutation, Missense
Polydipsia
Polyuria
Arginine Vasopressin

Figure

• 

  Fig. 1 Family pedigree with familial neurophyseal diabetes inspidus in four generations. The black symbols indicate an affected subject; females are indicated by circles and males by squares. The arrow indicates the proband. Genetically tested individuals are indicated by the "+" symbol.

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  Fig. 2 The arrow indicate a relatively small and hypointense neurohypophysis in the sella magnetic resonance image.

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  Fig. 3 Electropherogram of the AVP gene. A missense mutation was identified in the DNA from the proband; c.286G>T (p.Gly96Cys).

Reference

1. de Fost M, van Trotsenburg AS, van Santen HM, Endert E, van den Elzen C, Kamsteeg EJ, et al. Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene. Eur J Endocrinol. 2011; 165:161–165. PMID: 21498630.

2. Abu Libdeh A, Levy-Khademi F, Abdulhadi-Atwan M, Bosin E, Korner M, White PC, et al. Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. Eur J Endocrinol. 2010; 162:221–226. PMID: 19897608.

3. Baylis PH, Cheetham T. Diabetes insipidus. Arch Dis Child. 1998; 79:84–89. PMID: 9771260.

4. Kaplowitz PB, D'Ercole AJ, Robertson GL. Radioimmunoassay of vasopressin in familial cental diabetes insipidus. J Pediatr. 1982; 100:76–81. PMID: 7057320.

5. Lee YW, Lee KW, Ryu JW, Mok JO, Ki CS, Park HK, et al. Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus. Ann Clin Lab Sci. 2008; 38:12–14. PMID: 18316776.

6. Ito M, Mori Y, Oiso Y, Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 1991; 87:725–728. PMID: 1840604.

7. Christensen JH, Rittig S. Familial neurohypophyseal diabetes insipidus: an update. Semin Nephrol. 2006; 26:209–223. PMID: 16713494.

8. Hedrich CM, Zachurzok-Buczynska A, Gawlik A, Russ S, Hahn G, Koehler K, et al. Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations. Horm Res. 2009; 71:111–119. PMID: 19129716.

9. Robertson GL, Shelton RL, Athar S. The osmoregulation of vasopressin. Kidney Int. 1976; 10:25–37. PMID: 181630.

10. Tae HJ, Baek KH, Shim SM, Yoo SJ, Kang MI, Cha BY, et al. A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus. Mol Genet Metab. 2005; 86:307–313. PMID: 16006166.

11. Maghnie M, Villa A, Arico M, Larizza D, Pezzotta S, Beluffi G, et al. Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus. J Clin Endocrinol Metab. 1992; 74:795–800. PMID: 1548343.

12. Fluck CE, Deladoey J, Nayak S, Zeller O, Kopp P, Mullis PE. Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of preprovasopressin-neurophysin II (AVP-NP II). Eur J Endocrinol. 2001; 145:439–444. PMID: 11581002.

13. Sausville E, Carney D, Battey J. The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. J Biol Chem. 1985; 260:10236–10241. PMID: 2991279.

14. Eubanks S, Nguyen TL, Deeb R, Villafania A, Alfadhli A, Breslow E. Effects of diabetes insipidus mutations on neurophysin folding and function. J Biol Chem. 2001; 276:29671–29680. PMID: 11395505.

15. Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, et al. Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. Eur J Hum Genet. 2004; 12:44–51. PMID: 14673472.

16. Rittig S, Robertson GL, Siggaard C, Kovacs L, Gregersen N, Nyborg J, et al. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet. 1996; 58:107–117. PMID: 8554046.