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Article

Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

The Journal of clinical endocrinology and metabolism - 1 Sept 1998

Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S

Abstract excerpt

Novel mutations of the aquaporin-2 (AQP2) gene have been detected in Japanese female siblings with autosomal-recessive nephrogenic diabetes insipidus. The patients were compound heterozygote for point mutations at nucleotide position 374 (C374T) and at position 523 (G523A) in exon 2 of the AQP2 gene, resulting in substitution of methionine for threonine at codon 125 (T125M) and arginine for glycine at codon 175...

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Source

Identifiers

PMID: 9745427
DOI: 10.1210/jcem.83.9.5074

Genes

AQP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.PMID 9745427Read ↗

Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.Semantic proximity Read ↗

Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus.Semantic proximity Read ↗

Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.Semantic proximity Read ↗

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2Semantic proximity Read ↗

Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.Semantic proximity Read ↗

Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.Semantic proximity Read ↗

Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations.Semantic proximity Read ↗

Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.Semantic proximity Read ↗

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel.Semantic proximity Read ↗

Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.Semantic proximity Read ↗

Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.Semantic proximity Read ↗

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.Semantic proximity Read ↗

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