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A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
J Pediatr Endocrinol Metab. 2011; 24(9-10):807-9.JP

Abstract

Inherited nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to arginine vasopressin (AVP). The most common cause is mutations in the AVP receptor 2 (AVPR2) gene at Xq28. Severe complications of NDI are rare but can occur after severe dehydration without treatment. A 7-year-old boy presented with short stature and severe intellectual disability other than polyuria and polydipsia. The karyotype was normal. Direct sequencing revealed a novel missense mutation c.506T > C (p.L169P) in AVPR2 in the patient. His mother was heterozygous for the mutation. The mutation was absent in 103 unrelated healthy males and predicted to be consistently pathogenic by several prediction methods, including Polyphen, SIFT, PMut, PhD-SNP, SNPs3D, PANTHER, and MEMPACK. Awareness of the primary signs of NDI, polyuria, and polydipsia would facilitate early diagnosis and treatment to prevent its severe complications. Also, molecular analysis will provide a rapid and definitive diagnosis and facilitate genetic counseling for family planning.

Authors+Show Affiliations

Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, China.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22145481

Citation

Huang, Lingli, et al. "A Novel AVPR2 Missense Mutation in a Chinese Boy With Severe Inherited Nephrogenic Diabetes Insipidus." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 24, no. 9-10, 2011, pp. 807-9.
Huang L, Li W, Tang W, et al. A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus. J Pediatr Endocrinol Metab. 2011;24(9-10):807-9.
Huang, L., Li, W., Tang, W., & Lu, G. (2011). A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus. Journal of Pediatric Endocrinology & Metabolism : JPEM, 24(9-10), 807-9.
Huang L, et al. A Novel AVPR2 Missense Mutation in a Chinese Boy With Severe Inherited Nephrogenic Diabetes Insipidus. J Pediatr Endocrinol Metab. 2011;24(9-10):807-9. PubMed PMID: 22145481.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus. AU - Huang,Lingli, AU - Li,Wen, AU - Tang,Weilin, AU - Lu,Guangxin, PY - 2011/12/8/entrez PY - 2011/12/8/pubmed PY - 2012/1/5/medline SP - 807 EP - 9 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J Pediatr Endocrinol Metab VL - 24 IS - 9-10 N2 - Inherited nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to arginine vasopressin (AVP). The most common cause is mutations in the AVP receptor 2 (AVPR2) gene at Xq28. Severe complications of NDI are rare but can occur after severe dehydration without treatment. A 7-year-old boy presented with short stature and severe intellectual disability other than polyuria and polydipsia. The karyotype was normal. Direct sequencing revealed a novel missense mutation c.506T > C (p.L169P) in AVPR2 in the patient. His mother was heterozygous for the mutation. The mutation was absent in 103 unrelated healthy males and predicted to be consistently pathogenic by several prediction methods, including Polyphen, SIFT, PMut, PhD-SNP, SNPs3D, PANTHER, and MEMPACK. Awareness of the primary signs of NDI, polyuria, and polydipsia would facilitate early diagnosis and treatment to prevent its severe complications. Also, molecular analysis will provide a rapid and definitive diagnosis and facilitate genetic counseling for family planning. SN - 0334-018X UR - https://www.unboundmedicine.com/medline/citation/22145481/A_novel_AVPR2_missense_mutation_in_a_Chinese_boy_with_severe_inherited_nephrogenic_diabetes_insipidus_ L2 - https://www.degruyter.com/document/doi/10.1515/jpem.2011.302 DB - PRIME DP - Unbound Medicine ER -