A novel mutation in the AVPR2 gene in a palestinian family with nephrogenic diabetes insipidus

Abdulsalam Abu-Libdeh*, Isaiah D. Wexler, Imad Dweikat, David Zangen, Bassam Abu-Libdeh

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Nephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI and can be caused by mutations in the gene encoding the V2 vasopressin receptor (AVPR2). A Palestinian male infant presented in the neonatal period with failure to thrive, vomiting, irritability, fever, and polyuria, and had biochemical findings consistent with NDI. The diagnosis of NDI was established based on the clinical picture, absent response to desmopressin, and a similarly affected elder brother. Sequencing of the AVPR2 gene for the patient and his affected brother revealed a novel missense mutation with replacement of G by A in codon 82 located in exon 2 (TGC → TAC), causing a cysteine to tyrosine substitution (C82Y). Testing of the mother showed that she was the carrier of that mutation. This is the identified AVPR2 mutation in a Palestinian family. Knowledge of these mutations will allow genetic counseling and early diagnosis of affected males.

Original languageAmerican English
Pages (from-to)e1-e3
JournalJournal of Child Science
Volume7
Issue number1
DOIs
StatePublished - 1 Jan 2017

Bibliographical note

Publisher Copyright:
© 2017 Georg Thieme Verlag KG Stuttgart • New York.

Keywords

  • AVPR2
  • Hypernatremia
  • Nephrogenic diabetes insipidus
  • Vasopressin
  • Vasopressin receptor

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