A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin- neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus

Jonas Rutishauser, Peter Kopp, Mary Beth Gaskill, Thomas J. Kotlar, Gary L. Robertson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

Autosomal-dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by heterozygous mutations in the gene encoding vasopressin- neurophysin II (AVP-NPII) on chromosome 20p13. We analyzed the AVP-NP II gene in a family with adFNDI by direct sequencing. A novel C to T transition (289C→T in the cDNA, resulting in the substitution of Arg 97 by Cys (R97C) in the prepro-AVP-NPII precursor molecule) was identified in the gene region encoding neurophysin II in the index patient. This amino acid change is thought to result in the formation of an incorrectly folded hormone precursor, which may lead to chronic neurotoxicity and explain the dominant inheritance of the disease.

Original languageEnglish (US)
Pages (from-to)89-92
Number of pages4
JournalMolecular Genetics and Metabolism
Volume67
Issue number1
DOIs
StatePublished - May 1999

Keywords

  • Autosomal dominant
  • Diabetes insipidus
  • Mutation
  • Neurophysin II
  • Vasopressin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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