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Article

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene

  • Authors:
    • Hongbo Yang
    • Kemin Yan
    • Linjie Wang
    • Fengying Gong
    • Zimeng Jin
    • Huijuan Zhu
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Peking Union Medical College Hospital, Beijing 100730, P.R. China
  • Pages: 1309-1314
    |
    Published online on: June 4, 2019
       https://doi.org/10.3892/etm.2019.7645
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Abstract

Familial neurohypophyseal diabetes insipidus (FNDI) is a rare single‑gene disorder caused by mutations of the arginine vasopressin‑neurophysin II (AVP‑NPII) gene. These changes impair the release of vasopressin from the posterior pituitary gland. In the present study, the AVP‑NPII gene of a Chinese adult patient with central diabetes insipidus, the patient's symptomatic mother and an asymptomatic sister of the patient was sequenced. Examination of the family history revealed cases of FNDI across four generations. Gene sequencing analysis revealed a novel heterozygous mutation, c.268A>T (p.Lys90Ter), in exon 2 of the AVP‑NPII gene, in the patient and the patient's mother, which led to the loss of 6 cysteine residues and aberrant disulfide bonds, which is predicted to alter the mature protein structure. The present study identified a novel heterozygous nonsense mutation of the AVP‑NPII gene associated with FNDI, which broadens the spectrum of known mutations associated with this disorder and contributes to the understanding of its molecular basis.
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1 

Baylis PH and Robertson GL: Vasopressin function in familial cranial diabetes insipidus. Postgrad Med J. 57:36–40. 1981. View Article : Google Scholar : PubMed/NCBI

2 

Deniz F, Acar C, Saglar E, Erdem B, Karaduman T, Yonem A, Cagiltay E, Ay SA and Mergen H: Identification of a novel deletion in AVP-NPII gene in a patient with central diabetes insipidus. Ann Clin Lab Sci. 45:588–592. 2015.PubMed/NCBI

3 

Saglar E, Karaduman T, Ozcan M, Erdem B, Oflaz O, Sahin D, Deniz F, Ay AS and Mergen H: Identification of novel mutations in AVP-NPII gene. FEBS J. 283:1312016.

4 

Elias PC, Elias LL, Torres N, Moreira AC, Antunes-Rodrigues J and Castro M: Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. Clin Endocrinol (Oxf). 59:511–518. 2003. View Article : Google Scholar : PubMed/NCBI

5 

Turkkahraman D, Saglar E, Karaduman T and Mergen H: AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus. Pituitary. 18:898–904. 2015. View Article : Google Scholar : PubMed/NCBI

6 

Gainer H, Yamashita M, Fields RL, House SB and Rusnak M: The magnocellular neuronal phenotype: Cell-specific gene expression in the hypothalamo-neurohypophysial system. Prog Brain Res. 139:1–14. 2002. View Article : Google Scholar : PubMed/NCBI

7 

Murphy D and Wells S: In vivo gene transfer studies on the regulation and function of the vasopressin and oxytocin genes. J Neuroendocrinol. 15:109–125. 2003. View Article : Google Scholar : PubMed/NCBI

8 

Repaske DR, Phillips JA III, Kirby LT, Tze WJ, D'Ercole AJ and Battey J: Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab. 70:752–757. 1990. View Article : Google Scholar : PubMed/NCBI

9 

Ito M, Mori Y, Oiso Y and Saito H: A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 87:725–728. 1991. View Article : Google Scholar : PubMed/NCBI

10 

Christensen JH and Rittig S: Familial neurohypophyseal diabetes insipidus-an update. Semin Nephrol. 26:209–223. 2006. View Article : Google Scholar : PubMed/NCBI

11 

Willcutts MD, Felner E and White PC: Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Hum Mol Genet. 8:1303–1307. 1999. View Article : Google Scholar : PubMed/NCBI

12 

Trimpou P, Olsson DS, Ehn O and Ragnarsson O: Diagnostic value of the water deprivation test in the polyuria-polydipsia syndrome. Hormones. 16:414–422. 2017.PubMed/NCBI

13 

Rittig S, Robertson GL, Siggaard C, Kovács L, Gregersen N, Nyborg J and Pedersen EB: 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. 58:107–17. 1996.PubMed/NCBI

14 

Sausville E, Carney D and 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. 260:10236–10241. 1985.PubMed/NCBI

15 

Rao VV, Löffler C, Battey J and Hansmann I: The human gene for oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization. Cytogenet Cell Genet. 61:271–273. 1992. View Article : Google Scholar : PubMed/NCBI

16 

Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L and Rittig S: Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. Clin Endocrinol (Oxf). 60:125–136. 2004. View Article : Google Scholar : PubMed/NCBI

17 

Kobayashi H, Fujisawa I, Ikeda K, Son C, Iwakura T, Yoshimoto A, Kasahara M, Ishihara T and Ogawa Y: A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus. J Endocrinol Invest. 29:252–256. 2006. View Article : Google Scholar : PubMed/NCBI

18 

Tian D, Cen J, Nie M and Gu F: Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. Int J Mol Med. 38:1243–1249. 2016. View Article : Google Scholar : PubMed/NCBI

19 

Ye D, Dong F, Lu W, Zhang Z, Lu X, Li C and Liu Y: A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family. Clin Endocrinol (Oxf). 78:920–925. 2013. View Article : Google Scholar : PubMed/NCBI

20 

Luo Y, Wang B, Qiu Y, Zhang C, Jin C, Zhao Y, Zhu Q and Ma X: Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene. Endocrine. 42:208–213. 2012. View Article : Google Scholar : PubMed/NCBI

21 

Baglioni S, Corona G, Maggi M, Serio M and Peri A: Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety. Eur J Endocrinol. 151:605–611. 2004. View Article : Google Scholar : PubMed/NCBI

22 

Arima H, Morishita Y, Hagiwara D, Hayashi M and Oiso Y: Endoplasmic reticulum stress in vasopressin neurons of familial diabetes insipidus model mice: Aggregate formation and mRNA poly(A) tail shortening. Exp Physiol. 99:66–71. 2014. View Article : Google Scholar : PubMed/NCBI

23 

Ahner A and Brodsky JL: Checkpoints in ER-associated degradation: Excuse me, which way to the proteasome? Trends Cell Biol. 14:474–478. 2004. View Article : Google Scholar : PubMed/NCBI

24 

Gudinchet F, Brunelle F, Barth MO, Taviere V, Brauner R, Rappaport R and Lallemand D: MR imaging of the posterior hypophysis in children. AJR Am J Roentgenol. 153:351–354. 1989. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Yang H, Yan K, Wang L, Gong F, Jin Z and Zhu H: Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene. Exp Ther Med 18: 1309-1314, 2019.
APA
Yang, H., Yan, K., Wang, L., Gong, F., Jin, Z., & Zhu, H. (2019). Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene. Experimental and Therapeutic Medicine, 18, 1309-1314. https://doi.org/10.3892/etm.2019.7645
MLA
Yang, H., Yan, K., Wang, L., Gong, F., Jin, Z., Zhu, H."Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene". Experimental and Therapeutic Medicine 18.2 (2019): 1309-1314.
Chicago
Yang, H., Yan, K., Wang, L., Gong, F., Jin, Z., Zhu, H."Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene". Experimental and Therapeutic Medicine 18, no. 2 (2019): 1309-1314. https://doi.org/10.3892/etm.2019.7645
Copy and paste a formatted citation
x
Spandidos Publications style
Yang H, Yan K, Wang L, Gong F, Jin Z and Zhu H: Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene. Exp Ther Med 18: 1309-1314, 2019.
APA
Yang, H., Yan, K., Wang, L., Gong, F., Jin, Z., & Zhu, H. (2019). Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene. Experimental and Therapeutic Medicine, 18, 1309-1314. https://doi.org/10.3892/etm.2019.7645
MLA
Yang, H., Yan, K., Wang, L., Gong, F., Jin, Z., Zhu, H."Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene". Experimental and Therapeutic Medicine 18.2 (2019): 1309-1314.
Chicago
Yang, H., Yan, K., Wang, L., Gong, F., Jin, Z., Zhu, H."Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP‑NPII gene". Experimental and Therapeutic Medicine 18, no. 2 (2019): 1309-1314. https://doi.org/10.3892/etm.2019.7645
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