Water Intake and 24-hour Blood Pressure Monitoring in a Patient with Nephrogenic Diabetes Insipidus Caused by a Novel Mutation of the Vasopressin V2R Gene.

Owada, Masahiko; Kawamura, Minoru; Kimura, Yasukazu; Fujiwara, Takuya; Uchida, Shinichi; Sasaki, Sei; Hiramori, Katsuhiko

doi:10.2169/internalmedicine.41.119

Cited by 4 publications

(1 citation statement)

References 17 publications

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“…Some earlier cases were analyzed in Daniel Bichet's laboratory in Montreal and reported previously [11]. Also, several cases have been reported separately before [12][13][14][15][16]. The AVPR2 and AQP2 genes are relatively small and all exons and intron-exon boundaries were sequenced with usual sequencing methods [12,17,18].…”

Section: Methodsmentioning

confidence: 99%

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

et al. 2012

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Background Familial 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. Methods Gene mutation analyses were performed for 78 Japanese NDI families. All exons and intron-exon boundaries of the AVPR2 and AQP2 genes were directly sequenced. Results A total of 62 families (79 %) carried diseasecausing 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.Conclusions Most Japanese NDI families carry diseasecausing 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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Section: Methodsmentioning

confidence: 99%

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

et al. 2012

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AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

Spanakis

Milord

Gragnoli

2008

Journal Cellular Physiology

125

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Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2. We planned to perform a comprehensive review of all the AVPR2 mutations/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than others. We performed a Medline search and collected detailed information regarding all AVPR2 mutations and variants. We performed a frequency comparison between mutated and wild-type amino acids and codons. We predicted the mutation effect or reported it based on published in vitro studies. We also reported the ethnicity of each mutation/variant carrier. In summary, we identified 211 AVPR2 mutations which cause NDI in 326 families and 21 variants which do not cause NDI in 71 NDI families. We described 15 different types of mutations including missense, frameshift, inframe deletion, deletion, insertion, nonsense, duplication, splicing and combined mutations. The missense mutations represent the 55.83% of all the NDI published families. Arginine and tyrosine are significantly (P = 4.07E-08 and P = 3.27E-04, respectively) the AVPR2 most commonly mutated amino acids. Alanine and glutamate are significantly (P = 0.009 and P = 0.019, respectively) the least mutated AVPR2 amino acids. The spectrum of mutations varies from rare gene variants or polymorphisms not causing NDI to rare mutations causing NDI, among which arginine and tyrosine are the most common missense. The AVPR2 mutations are spread world-wide. Our study may serve as an updated review, comprehensive of all AVPR2 variants and specific gene locations. J. Cell. Physiol. 217: 605-617, 2008. (c) 2008 Wiley-Liss, Inc.

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Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother

Qin,

Luo,

Wang

et al. 2024

Journal of Pediatric Endocrinology and Metabolism

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Objectives Mutations in the AVPR2 gene are the most common cause of nephrogenic diabetes insipidus(NDI). In-frame deletions of the AVPR2 gene are a rare variant that results in NDI. We report a novel variant of the p.H138del in an NDI family with twin male patients and three female carriers of different clinical phenotypes. Methods The proband’s blood genome was sequenced with a panel, and the variants were classified according to ACMG/AMP (2015) guidelines. X chromosome inactivation (XCI) was analyzed in the peripheral blood of his mother, grandmother, and maternal aunt, respectively. The haplotypes of the X chromosome were determined using their STR loci. Results A novel in-frame deletion in the AVPR2 gene was detected in monozygotic-twin boys, and his mother, grandmother, and maternal aunt were heterozygous carriers. The two boys showed typical NDI, and their mother and grandmother presented polydipsia, polydipsia, and polyuria, but the maternal aunt did not have similar symptoms. The blood XCI results of the mother, grandmother, and maternal aunt showed random inactivation (36.18 , 48.37, and 49.30 %, respectively). The X haplotype indicated that the variant of the mother and grandmother was on their activated X chromosomes(Xa), while the maternal aunt’s variant was on her inactivated X chromosome(Xi). Conclusions In-frame deletion of the AVPR2 gene within its functional domain can significantly affect protein function, which is one of the vital causes of NDI. The clinical variability of female carriers of AVPR2 is associated with underlying environmental and epigenetic factors or complex recombination of the X chromosomes.

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Water Intake and 24-hour Blood Pressure Monitoring in a Patient with Nephrogenic Diabetes Insipidus Caused by a Novel Mutation of the Vasopressin V2R Gene.

Cited by 4 publications

References 17 publications

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother

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