Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene

Park,Youn Jong; Baik,Haing Woon; Cheong,Hae Il; Kang,Ju Hyung

doi:10.3892/br.2014.283

July-August 2014 Volume 2 Issue 4

Full Size Image

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

An International Open Access Journal Devoted to General Medicine.

July-August 2014 Volume 2 Issue 4

Full Size Image

Article

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene

Authors:
- Youn Jong Park
- Haing Woon Baik
- Hae Il Cheong
- Ju Hyung Kang
View Affiliations / Copyright

Affiliations: Department of Pediatrics, School of Medicine, Eulji University, Daejeon 302‑799, Korea, Department of Biochemistry and Molecular Biology, School of Medicine, Eulji University, Daejeon 302‑799, Korea, Department of Pediatrics, Seoul National University Children's Hospital, Seoul 110‑799, Korea
Pages: 596-598
|
Published online on: May 19, 2014

https://doi.org/10.3892/br.2014.283
Expand metrics +

Abstract

Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder caused by mutations of the arginine vasopressin (AVP) V2 receptor or aquaporin 2 (AQP2) genes. The current study presented the case of CNDI in a 1?month?old male with a novel mutation in the AQP2 gene. The patient was referred due to the occurrence of hypernatremia and mild?intermittent fever since birth. An AVP stimulation test was compatible with CNDI as there was no significant response to desmopressin. Molecular genetic analysis demonstrated two mutations in exon 1 of the AQP2 gene: C to T transition, which resulted in a missense mutation of 108Thr (ACG) to Met (ATG); and a 127, 128 delCA, which resulted in a deletion mutation of glutamine in position 43 at codon CAG as the first affected amino acid, with the new reading frame endign in a termination codon at position 62. The molecular genetic analysis of the parents showed that the missense mutation was inherited maternally and the deletion mutation was inherited paternally. The parents showed no signs or symptoms of CNDI, indicating autosomal recessive inheritance. The 108Thr (ACG) to Met (ATG) mutation was confirmed as a novel mutation. Therefore, the molecular identification of the AQP2 gene has clinical significance, as early recognition of CNDI in infants that show only non?specific symptoms, can be facilitated. Thus, repeated episodes of dehydration, which may cause physical and mental retardation can be avoided.

View Figures

View References

1	Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P and Rosenthal W: Molecular cloning of the receptor for human antidiuretic hormone. Nature. 357:333–335. 1992. View Article : Google Scholar : PubMed/NCBI
2	Fushimi K, Uchida S, Hara Y, Hirata Y, Marumo F and Sasaki S: Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature. 361:549–552. 1993. View Article : Google Scholar : PubMed/NCBI
3	van Lieburg AF, Knoers NV and Monnens LA: Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 10:1958–1964. 1999.PubMed/NCBI
4	Hoekstra JA, van Lieburg AF, Monnens LA, Hulstijn-Dirkmaat GM and Knoers VV: Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus. Am J Med Genet. 61:81–88. 1996. View Article : Google Scholar : PubMed/NCBI
5	Tajima T, Okuhara K, Satoh K, Nakae J and Fujieda K: Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. Endocr J. 50:473–476. 2003. View Article : Google Scholar : PubMed/NCBI
6	Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS and Choi Y: Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus. J Korean Med Sci. 20:1076–1078. 2005. View Article : Google Scholar : PubMed/NCBI
7	Moon SS, Kim HJ, Choi YK, Seo HA, Jeon JH, Lee JE, Lee JY, Kwon TH, Kim JG, Kim BW and Lee IK: Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus. Endocr J. 56:905–910. 2009. View Article : Google Scholar : PubMed/NCBI
8	Loonen AJ, Knoers NV, van Os CH and Deen PM: Aquaporin 2 mutations in nephrogenic diabetes insipidus. Semin Nephrol. 28:252–265. 2008. View Article : Google Scholar : PubMed/NCBI
9	Liberatore RD Junior, Carneiro JG, Leidenz FB, Melilo-Carolino R, Sarubi HC and De Marco L: Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus. Clinics (Sao Paulo). 67:79–82. 2012. View Article : Google Scholar : PubMed/NCBI
10	Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K and Shotelersuk V: Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus. Endocrine. 33:210–214. 2008. View Article : Google Scholar : PubMed/NCBI
11	Robben JH, Knoers NVAM and Deen PM: Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 291:F257–270. 2006. View Article : Google Scholar : PubMed/NCBI
12	Lejarraga H, Caletti MG, Caino S and Jiménez A: Long term growth of children with nephrogenic diabetes insipidus. Pediatr Nephrol. 23:2007–2012. 2008. View Article : Google Scholar
13	Knoers NV and Deen PM: Molecular and cellular defects in nephrogenic diabetes insipidus. Pediatr Nephrol. 16:1146–1152. 2001. View Article : Google Scholar : PubMed/NCBI
14	Bichet DG: Nephrogenic diabetes insipidus. Adv Chronic Kidney Dis. 13:96–104. 2006. View Article : Google Scholar

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene

This article is mentioned in:

Abstract

Figure 1

Related Articles