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A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.
J Pediatr Endocrinol Metab. 2010 Apr; 23(4):415-8.JP

Abstract

We describe an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene. A 1-month-old infant showed failure to thrive and hypernatremia. The water deprivation test revealed elevated serum osmolality and low urine osmolality. The patient showed a slight but not significant response to intramuscular injection of arginine vasopressin (AVP). DNA analysis revealed a novel missense mutation involving substitution of proline for leucine at position 173 (P173L), which was reported to be important for stabilizing the hydrogen bond between tyrosine at position 205 and leucine at position 169. This mutation was not detected in 116 ethnic-matched controls. This case, with clinical data including the water deprivation test and P173L mutation, will facilitate understanding the structure and function of the A VPR2.

Authors+Show Affiliations

Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan. ttakatani@graduate.chiba-u.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20583549

Citation

Takatani, Tomozumi, et al. "A Novel Missense Mutation in the AVPR2 Gene of a Japanese Infant With Nephrogenic Diabetes Insipidus." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 23, no. 4, 2010, pp. 415-8.
Takatani T, Matsuo K, Kinoshita K, et al. A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus. J Pediatr Endocrinol Metab. 2010;23(4):415-8.
Takatani, T., Matsuo, K., Kinoshita, K., Takatani, R., Minagawa, M., & Kohno, Y. (2010). A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus. Journal of Pediatric Endocrinology & Metabolism : JPEM, 23(4), 415-8.
Takatani T, et al. A Novel Missense Mutation in the AVPR2 Gene of a Japanese Infant With Nephrogenic Diabetes Insipidus. J Pediatr Endocrinol Metab. 2010;23(4):415-8. PubMed PMID: 20583549.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus. AU - Takatani,Tomozumi, AU - Matsuo,Kaoru, AU - Kinoshita,Kaori, AU - Takatani,Rieko, AU - Minagawa,Masanori, AU - Kohno,Yoichi, PY - 2010/6/30/entrez PY - 2010/6/30/pubmed PY - 2010/7/14/medline SP - 415 EP - 8 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J Pediatr Endocrinol Metab VL - 23 IS - 4 N2 - We describe an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene. A 1-month-old infant showed failure to thrive and hypernatremia. The water deprivation test revealed elevated serum osmolality and low urine osmolality. The patient showed a slight but not significant response to intramuscular injection of arginine vasopressin (AVP). DNA analysis revealed a novel missense mutation involving substitution of proline for leucine at position 173 (P173L), which was reported to be important for stabilizing the hydrogen bond between tyrosine at position 205 and leucine at position 169. This mutation was not detected in 116 ethnic-matched controls. This case, with clinical data including the water deprivation test and P173L mutation, will facilitate understanding the structure and function of the A VPR2. SN - 0334-018X UR - https://www.unboundmedicine.com/medline/citation/20583549/A_novel_missense_mutation_in_the_AVPR2_gene_of_a_Japanese_infant_with_nephrogenic_diabetes_insipidus_ L2 - https://www.degruyter.com/document/doi/10.1515/jpem.2010.065 DB - PRIME DP - Unbound Medicine ER -