AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

TURKKAHRAMAN D., Saglar E., Karaduman T., MERGEN H.

PITUITARY, vol.18, no.6, pp.898-904, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1007/s11102-015-0668-z
  • Journal Name: PITUITARY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.898-904
  • Keywords: Familial central diabetes insipidus, AVP-NPII gene, Mutation, NEUROPHYSIN-II GENE, MUTANT VASOPRESSIN PRECURSORS, SWISS-MODEL, ARGININE-VASOPRESSIN, IDENTIFICATION, SECRETION
  • Hacettepe University Affiliated: Yes

Abstract

Background Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.