Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes insipidus

Cheong, Hae Il; Park, Hye Won; Ha, Il Soo; Moon, Hye-Rim; Choi, Yong; Ko, Kwang Wook; Jun, Jong Kwan

doi:10.1159/000189581

Cited by 24 publications

(15 citation statements)

References 12 publications

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“…This pattern has been reported in other studies, regardless of the origin of the populations [10,43,50]. Importantly, the complete genetic study revealed nine not previously reported AVPR2 mutations: p.Ser54Arg, p.Tyr117*, p.Ala140Thr, p.Ser171Alafs*24, p.Trp200Glyfs*12, p.Ala216Aspfs*55, p.Cys283Tyr, Intracellularly retained protein mainly in the endoplasmic reticulum [34,44].…”

Section: Discussionsupporting

confidence: 82%

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

et al. 2015

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Section: Discussionsupporting

confidence: 82%

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

et al. 2015

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“…AVPR2 [Cheong et al, 1997] genes. The mutation in the IGHMBP gene comprises the following rearrangement: a deletion of 1737 bp plus an intervening wild-type sequence of 302 bp plus an inversion of 66 bp plus a deletion of 2580 bp.…”

Section: Inversions That Occur In a More Complicated Contextmentioning

confidence: 99%

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

et al. 2005

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Serial replication slippage in cis (SRScis) provides a plausible explanation for many complex genomic rearrangements that underlie human genetic disease. This concept, taken together with the intra- and intermolecular strand switch models that account for mutations that arise via quasipalindrome correction, suggest that intrachromosomal SRS in trans (SRStrans) mediated by short inverted repeats may also give rise to a diverse series of complex genomic rearrangements. If this were to be so, such rearrangements would invariably generate inversions. To test this idea, we collated all informative mutations involving inversions of >or=5 bp but <1 kb by screening the Human Gene Mutation Database (HGMD; www.hgmd.org) and conducting an extensive literature search. Of the 21 resulting mutations, only two (both of which coincidentally contain untemplated additions) were found to be incompatible with the SRStrans model. Eighteen (one simple inversion, six inversions involving sequence replacement by upstream or downstream sequence, five inversions involving the partial reinsertion of removed sequence, and six inversions that occurred in a more complicated context) of the remaining 19 mutations were found to be consistent with either two steps of intrachromosomal SRStrans or a combination of replication slippage in cis plus intrachromosomal SRStrans. The remaining lesion, a 31-kb segmental duplication associated with a small inversion in the SLC3A1 gene, is explicable in terms of a modified SRS model that integrates the concept of "break-induced replication." This study therefore lends broad support to our postulate that intrachromosomal SRStrans can account for a variety of complex gene rearrangements that involve inversions.

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“…Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by the insensitivity of the kidney to the antidiuretic effect of vasopressin (1). It is distinguished from neurohypophyseal diabetes insipidus by the lack of response to exogenous vasopressin (2).…”

Section: Introductionmentioning

confidence: 99%

X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study

Hong¹,

Kang²,

Choi³

et al. 2014

Journal of Pediatric Endocrinology and Metabolism

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A retrospective genotype and phenotype analysis of X-linked congenital nephrogenic diabetes insipidus (NDI) was conducted on a nationwide cohort of 25 (24 male, 1 female) Korean children with AVPR2 gene mutations, comparing non-truncating and truncating mutations. In an analysis of male patients, the median age at diagnosis was 0.9 years old. At a median follow-up of 5.4 years, urinary tract dilatations were evident in 62% of patients and their median glomerular filtration rate was 72 mL/min/1.73 m2. Weights and heights were under the 3rd percentile in 22% and 33% of patients, respectively. One patient had low intelligence quotient and another developed end-stage renal disease. No statistically significant genotype-phenotype correlation was found between non-truncating and truncating mutations. One patient was female; she was analyzed separately because inactivation and mosaicism of the X chromosome may influence clinical manifestations in female patients. Current unsatisfactory long-term outcome of congenital NDI necessitates a novel therapeutic strategy.

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Six Novel Mutations in the Vasopressin V2 Receptor Gene Causing Nephrogenic Diabetes insipidus

Cited by 24 publications

References 12 publications

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

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

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study

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