Article

X-linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case Series

2026-06-09

Abstract excerpt

<h4>Background: </h4> Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal resistance to arginine vasopressin, most commonly caused by pathogenic variants in the AVPR2 gene. While X-linked NDI classically affects males, heterozygous females may exhibit variable clinical expression. Certain AVPR2 variants are associated with partial NDI and milder phenotypes. <h4>Methods:</h4> We conducted...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ad01baac-5c5d-50d7-a9c0-9db6248b7e4a
DOI: 10.20944/preprints202606.0658.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

X-linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case SeriesDOI 10.20944/preprints202606.0658.v1Read

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes InsipidusSemantic proximity Read

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.Semantic proximity Read

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.Semantic proximity Read

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

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.Semantic proximity Read

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred.Semantic proximity Read

Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Semantic proximity Read

Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.Semantic proximity Read

Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree.Semantic proximity Read

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.Semantic proximity Read

Familial forms of diabetes insipidus: clinical and molecular characteristics.Semantic proximity Read

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.Semantic proximity Read