A Novel Mutation in the Arginine Vasopressin Receptor 2 Gene Causing Congenital Nephrogenic Diabetes Insipidus | Zendy

Aslı Çelebi Tayfur | Zendy; Tuğçe Karaduman | Zendy; Merve Özcan Türkmen | Zendy; Dilara Şahin | Zendy; Aysun Çaltık Yılmaz | Zendy; Bahar Büyükkaragöz | Zendy; Ayşe Derya Buluş | Zendy; Hatice Mergen | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

A Novel Mutation in the Arginine Vasopressin Receptor 2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

Author(s) -

Aslı Çelebi Tayfur,

Tuğçe Karaduman,

Merve Özcan Türkmen,

Dilara Şahin,

Aysun Çaltık Yılmaz,

Bahar Büyükkaragöz,

Ayşe Derya Buluş,

Hatice Mergen

Publication year - 2018

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.0097

Subject(s) - nephrogenic diabetes insipidus , missense mutation , proband , endocrinology , medicine , arginine vasopressin receptor 2 , vasopressin , diabetes insipidus , polyuria , exon , mutation , genetics , biology , gene , diabetes mellitus , receptor , antagonist

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research