ArticleClinical and experimental nephrology2013
Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
Article in Clinical and experimental nephrology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 58 citations in OpenAlex.
- X-Linked Nephrogenic Diabetes Insipidus Associated with the AVPR2 c.964C>T (p.Pro322Ser) Variant: A Family Case Series.Journal of clinical medicine · 2026Article
- A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.Nature structural & molecular biology · 2025Article
- Identification of a novel missense variant in theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.Molecular genetics & genomic medicine · 2024Article
- Extreme hypernatremia after a laparoscopic hysterectomy and bilateral salpingo-oophorectomy: a case report and literature review.Frontiers in surgery · 2024Review
- Aquaporins in Diabetes Insipidus.Advances in experimental medicine and biology · 2023Article
- V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.Frontiers in endocrinology · 2023Review
- Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Journal of endocrinological investigation · 2021Article
- Review
- Activation of AQP2 water channels by protein kinase A: therapeutic strategies for congenital nephrogenic diabetes insipidus.Clinical and experimental nephrology · 2021Review
- NovelFrontiers in endocrinology · 2021Article
- Review
- Article
- Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.Molecular genetics & genomic medicine · 2019Article
- A Novel Mutation in theJournal of clinical research in pediatric endocrinology · 2018Article
- Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.BMC medical genetics · 2018Article
- AKAPs-PKA disruptors increase AQP2 activity independently of vasopressin in a model of nephrogenic diabetes insipidus.Nature communications · 2018Article
- Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to theCase reports in pediatrics · 2018Article
- Wnt5a induces renal AQP2 expression by activating calcineurin signalling pathway.Nature communications · 2016Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial form of nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by arginine vasopressin type 2 receptor (AVPR2) or water channel aquaporin 2 (AQP2) gene mutations. It is speculated that 90% of NDI families carry disease-causing mutations in AVPR2 and 10% carry the mutations in AQP2; however, these percentages have not been supported by actual data. It is also unknown whether these percentages vary in different ethnic groups.
methodsGene mutation analyses were performed for 78 Japanese NDI families. All exons and intron-exon boundaries of the AVPR2 and AQP2 genes were directly sequenced.
resultsA total of 62 families (79%) carried disease-causing mutations in AVPR2, while nine families (12%) carried mutations in AQP2. We identified 22 novel putatively disease-causing mutations (19 in AVPR2 and 3 in AQP2). Regarding AVPR2, 52 disease-causing mutations were identified. Among them, missense mutations were most common (54%), followed by deletion mutations. In the 64 women who had monoallelic disease-causing AVPR2 mutations, 16 (25%) had NDI symptoms, including 4 complete NDI subjects. Regarding AQP2, 9 disease-causing mutations were identified in nine families. Two missense mutations and one deletion mutation showed a recessive inheritance, while one missense mutation and five small deletion mutations in the C-terminus of AQP2 showed a dominant inheritance.
conclusionsMost Japanese NDI families carry disease-causing mutations in AVPR2 and 12% carry mutations in AQP2. A total of 22 novel putatively disease-causing mutations were identified. The relatively high occurrence of symptomatic carriers of AVPR2 mutations needs attention.
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