A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.
Publication
, Journal Article
Kobayashi, D; Nagaraj, SK; Lin, J-J; Bichet, DG
Published in: NDT Plus
December 2010
We describe a paediatric case of nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 gene (AVPR2) in the absence of a family history of congenital polyuria. The patient, a 5-month-old Caucasian boy, had failure to thrive and hypernatraemia. On admission to hospital, he had a plasma sodium of 171 mEq/L with a concomittant urine osmolality of 131 mOsm/kg. Molecular genetic analysis demonstrated that the patient had an AVPR2 mutation (c.861C > G) resulting in a substitution of tryptophan for serine at amino acid position 167 (p.Ser167Trp). His mother was heterozygous for the same Ser167Trp mutation which was found to be de novo from the DNA analysis of the maternal grandparents.
Duke Scholars
Published In
NDT Plus
DOI
ISSN
1753-0784
Publication Date
December 2010
Volume
3
Issue
6
Start / End Page
542 / 544
Location
England
Related Subject Headings
- Urology & Nephrology
- 1103 Clinical Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Kobayashi, D., Nagaraj, S. K., Lin, J.-J., & Bichet, D. G. (2010). A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus. NDT Plus, 3(6), 542–544. https://doi.org/10.1093/ndtplus/sfq158
Kobayashi, Daisuke, Shashi K. Nagaraj, Jen-Jar Lin, and Daniel G. Bichet. “A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.” NDT Plus 3, no. 6 (December 2010): 542–44. https://doi.org/10.1093/ndtplus/sfq158.
Kobayashi D, Nagaraj SK, Lin J-J, Bichet DG. A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus. NDT Plus. 2010 Dec;3(6):542–4.
Kobayashi, Daisuke, et al. “A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.” NDT Plus, vol. 3, no. 6, Dec. 2010, pp. 542–44. Pubmed, doi:10.1093/ndtplus/sfq158.
Kobayashi D, Nagaraj SK, Lin J-J, Bichet DG. A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus. NDT Plus. 2010 Dec;3(6):542–544.
Published In
NDT Plus
DOI
ISSN
1753-0784
Publication Date
December 2010
Volume
3
Issue
6
Start / End Page
542 / 544
Location
England
Related Subject Headings
- Urology & Nephrology
- 1103 Clinical Sciences