Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus

Nephron. 1997;75(4):431-7. doi: 10.1159/000189581.


X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the vasopressin V2 receptor (AVPR2) gene. We analyzed the AVPR2 gene in 6 unrelated Korean families with X-linked NDI, and found 6 novel mutations. Two of them were missense point mutations, 2 were short deletions causing frameshifts, 1 was a duplication of 9 bases, and 1 was a compound gene rearrangement. Four mutations cosegregated with the clinical phenotype in corresponding family members, and one was a de novo mutation. In 1 family, prenatal diagnosis was made by amniocentesis. In conclusion, we found 6 novel mutations in the AVPR2 gene causing X-linked NDI in 6 families, and direct mutational analysis is now applicable for carrier detection and early (prenatal) diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • DNA / analysis
  • Diabetes Insipidus, Nephrogenic / diagnosis
  • Diabetes Insipidus, Nephrogenic / genetics*
  • Diabetes Insipidus, Nephrogenic / physiopathology
  • Electrophoresis, Agar Gel
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / physiology*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis
  • Receptors, Vasopressin / genetics*


  • Receptors, Vasopressin
  • DNA