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A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.
Endocr Pract. 2010 Mar-Apr; 16(2):231-6.EP

Abstract

OBJECTIVE

To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation.

METHODS

We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis.

RESULTS

The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride.

CONCLUSION

Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein.

Authors+Show Affiliations

Department of Pediatric Endocrinology, Dokuz Eylül Faculty of Medicine, Inciralti, Izmir, Turkey.No 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

19703807

Citation

Abaci, Ayhan, et al. "A Novel Mutation in the AVPR2 Gene (222delA) Associated With X-linked Nephrogenic Diabetes Insipidus in a Boy With Growth Failure." Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, vol. 16, no. 2, 2010, pp. 231-6.
Abaci A, Wood K, Demir K, et al. A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. Endocr Pract. 2010;16(2):231-6.
Abaci, A., Wood, K., Demir, K., Büyükgebiz, A., Böber, E., & Kopp, P. (2010). A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 16(2), 231-6. https://doi.org/10.4158/EP09165.CR
Abaci A, et al. A Novel Mutation in the AVPR2 Gene (222delA) Associated With X-linked Nephrogenic Diabetes Insipidus in a Boy With Growth Failure. Endocr Pract. 2010 Mar-Apr;16(2):231-6. PubMed PMID: 19703807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. AU - Abaci,Ayhan, AU - Wood,Kent, AU - Demir,Korcan, AU - Büyükgebiz,Atilla, AU - Böber,Ece, AU - Kopp,Peter, PY - 2009/8/26/entrez PY - 2009/8/26/pubmed PY - 2010/6/25/medline SP - 231 EP - 6 JF - Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists JO - Endocr Pract VL - 16 IS - 2 N2 - OBJECTIVE: To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. METHODS: We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis. RESULTS: The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride. CONCLUSION: Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein. SN - 1934-2403 UR - https://www.unboundmedicine.com/medline/citation/19703807/A_novel_mutation_in_the_AVPR2_gene__222delA__associated_with_X_linked_nephrogenic_diabetes_insipidus_in_a_boy_with_growth_failure_ L2 - http://journals.aace.com/doi/10.4158/EP09165.CR?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -