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

  • Published online on: June 4, 2019     https://doi.org/10.3892/etm.2019.7645
  • Pages: 1309-1314
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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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August-2019
Volume 18 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

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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