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Article

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

European journal of pediatrics - 1 May 2016

Schernthaner-Reiter Marie Helene, Adams David, Trivellin Giampaolo, Ramnitz Mary Scott, Raygada Margarita, Golas Gretchen, Faucz Fabio R, Nilsson Ola, Nella Aikaterini A, Dileepan Kavitha, Lodish Maya, Lee Paul, Tifft Cynthia, Markello Thomas, Gahl William, Stratakis Constantine A

Abstract excerpt

UNLABELLED: X-linked nephrogenic diabetes insipidus (NDI, OMIM#304800) is caused by mutations in the arginine vasopressin (AVP, OMIM*192340) receptor type 2 (AVPR2, OMIM*300538) gene. A 20-month-old boy and his 8-year-old brother presented with polyuria, polydipsia, and failure to thrive. Both boys demonstrated partial DDAVP (1-desamino-8-D AVP or desmopressin) responses; thus, NDI diagnosis was delayed. While...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Insipidus, Nephrogenic

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Source

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Identifiers

PMID: 26795631
DOI: 10.1007/s00431-015-2684-4
PMCID: PMC6561467

Genes

AVPR2
AVP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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