Horm Metab Res 2020; 52(11): 796-802
DOI: 10.1055/a-1175-1307
Endocrine Care

Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature

Lara L.I. Feldkamp
1   Endocrinology in Charlottenburg, Berlin, Germany
2   Charité Universitätsmedizin Berlin, Berlin, Germany
Elke Kaminsky
3   Laboratory for Molecular Genetics, Hamburg, Germany
Tina Kienitz
1   Endocrinology in Charlottenburg, Berlin, Germany
Marcus Quinkler
1   Endocrinology in Charlottenburg, Berlin, Germany
› Author Affiliations


Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant hereditary disorder characterized by severe polydipsia and polyuria that usually presents in early childhood. In this study, we describe a new arginine vasopressin (AVP) gene mutation in an ethnic German family with FNDI and provide an overview of disease-associated AVP-gene mutations that are already described in literature. Three members of a German family with neurohypophyseal diabetes insipidus were studied. Isolated DNA from peripheral blood samples was used for mutation analysis by sequencing the whole coding region of AVP-NPII gene. Furthermore, we searched the electronic databases MEDLINE (Pubmed) as well as HGMD, LOVD-ClinVar, db-SNP and genomAD in order to compare our cases to that of other patients with FNDI. Genetic analysis of the patients revealed a novel heterozygote missense mutation in exon 2 of the AVP gene (c.274T>G), which has not yet been described in literature. We identified reports of more than 90 disease-associated mutations in the AVP gene in literature. The novel mutation of the AVP gene seems to cause FNDI in the presented German family. Similar to our newly detected mutation, most mutations causing FNDI are found in exon 2 of the AVP gene coding for neurophysin II. Clinically, it is important to think of FNDI in young children presenting with polydipsia and polyuria.

Publication History

Received: 01 March 2020

Accepted after revision: 06 May 2020

Article published online:
06 July 2020

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