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A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.
Endocrine. 2014 May; 46(1):148-53.E

Abstract

X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient. Prospective clinical data were collected for all family members. The water deprivation test confirmed the diagnosis of diabetes insipidus. The patient has severe symptoms like deep polyuria nocturia, polydipsia, and fatigue. He was given arginine vasopressin treatment while he was a child. However, he could not get well due to his nephrogenic type of illness. Both of his nephews have the same complains in addition to failure to grow. We have sequenced all exons and intron-exon boundaries of the AVPR2 gene of all family members. The analyses of bioinformatics and comparative genomics of the deletion were done via considering the DNA level damage. AVPR2 gene mutation results in the absence of the three transmembrane domains, two extracellular domains, and one cytoplasmic domain. Three-dimensional protein structure prediction was shown. We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities.

Authors+Show Affiliations

Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara, 06800, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24026507

Citation

Saglar, Emel, et al. "A Large Deletion of the AVPR2 Gene Causing Severe Nephrogenic Diabetes Insipidus in a Turkish Family." Endocrine, vol. 46, no. 1, 2014, pp. 148-53.
Saglar E, Deniz F, Erdem B, et al. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family. Endocrine. 2014;46(1):148-53.
Saglar, E., Deniz, F., Erdem, B., Karaduman, T., Yönem, A., Cagiltay, E., & Mergen, H. (2014). A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family. Endocrine, 46(1), 148-53. https://doi.org/10.1007/s12020-013-0043-7
Saglar E, et al. A Large Deletion of the AVPR2 Gene Causing Severe Nephrogenic Diabetes Insipidus in a Turkish Family. Endocrine. 2014;46(1):148-53. PubMed PMID: 24026507.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family. AU - Saglar,Emel, AU - Deniz,Ferhat, AU - Erdem,Beril, AU - Karaduman,Tugce, AU - Yönem,Arif, AU - Cagiltay,Eylem, AU - Mergen,Hatice, Y1 - 2013/09/13/ PY - 2013/05/29/received PY - 2013/08/19/accepted PY - 2013/9/13/entrez PY - 2013/9/13/pubmed PY - 2014/11/18/medline SP - 148 EP - 53 JF - Endocrine JO - Endocrine VL - 46 IS - 1 N2 - X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient. Prospective clinical data were collected for all family members. The water deprivation test confirmed the diagnosis of diabetes insipidus. The patient has severe symptoms like deep polyuria nocturia, polydipsia, and fatigue. He was given arginine vasopressin treatment while he was a child. However, he could not get well due to his nephrogenic type of illness. Both of his nephews have the same complains in addition to failure to grow. We have sequenced all exons and intron-exon boundaries of the AVPR2 gene of all family members. The analyses of bioinformatics and comparative genomics of the deletion were done via considering the DNA level damage. AVPR2 gene mutation results in the absence of the three transmembrane domains, two extracellular domains, and one cytoplasmic domain. Three-dimensional protein structure prediction was shown. We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities. SN - 1559-0100 UR - https://www.unboundmedicine.com/medline/citation/24026507/A_large_deletion_of_the_AVPR2_gene_causing_severe_nephrogenic_diabetes_insipidus_in_a_Turkish_family_ L2 - https://dx.doi.org/10.1007/s12020-013-0043-7 DB - PRIME DP - Unbound Medicine ER -