A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus


Creative Commons License

Tayfur A. C., KARADUMAN T., Turkmen M. O., ŞAHİN D., Yilmaz A. C., Buyukkaragoz B., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.10, no.4, pp.350-356, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.4274/jcrpe.0097
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.350-356
  • Keywords: AVPR2, congenital nephrogenic diabetes insipidus, mutation, RECEPTOR GENE, EXPRESSION, DIAGNOSIS, FAMILIES, CLONING, WATER
  • Hacettepe University Affiliated: Yes

Abstract

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.