A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes

Nicos Skordis, Philippos C. Patsalis, Joe A. Hettinger, Maria Kontou, Eleni Herakleous, M. R S Krishnamani, J. A. Phillips

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18 Citations (Scopus)

Abstract

To determine the genetic basis of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) in a Cypriot family, we ascertained and studied a large, four-generation kindred in which all participating family members had arginine vasopressin-neurophysin II (AVP-NP-II) gene analyses done. A G to A transition was found by DNA sequence analysis at position 1773 (G1773A) of the AVP-NPII gene which is predicted to encode a substitution of tyrosine for cysteine in codon 59 (CYS59TYR). The mutation was confirmed by restriction endonuclease analysis of PCR amplification products that contain the corresponding segment of the AVP-NPII gene. To clarify the morphologic status of the pituitaries of family members, 12 affected and 3 nonaffected members had magnetic resonance imaging (MRI) studies. The bright spot of the posterior pituitary lobe was completely absent in 75% and faintly identified in 25% of the affected members who were examined with MRI. We conclude that (1) a novel G1773A transition in exon 2 of the AVP-NPII gene causes ADNDI in the large Cypriot kindred studied, (2) this mutation is predicted to encode a CYS59TYR substitution in NPII, and (3) MRI studies of the posterior pituitary lobes of affected family members show either a decreased intensity or a complete absence of the bright spot in all cases studied. Copyright (C) 2000 S. Karger AG, Basel.

Original languageEnglish
Pages (from-to)239-245
Number of pages7
JournalHormone Research
Volume53
Issue number5
Publication statusPublished - 2000

Keywords

  • AVP-NPII gene
  • Neurohypophyseal diabetes insipidus
  • Pituitary

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    Skordis, N., Patsalis, P. C., Hettinger, J. A., Kontou, M., Herakleous, E., Krishnamani, M. R. S., & Phillips, J. A. (2000). A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. Hormone Research, 53(5), 239-245.