Identification of a novel deletion in AVP-NPII gene in a patient with central diabetes insipidus

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dc.authorscopusid55938167400
dc.authorscopusid7101800240
dc.authorscopusid35068388000
dc.authorscopusid55227910700
dc.authorscopusid55260641400
dc.authorscopusid6506541291
dc.authorscopusid24474001600
dc.contributor.authorDeniz F.
dc.contributor.authorAcar C.
dc.contributor.authorSaglar E.
dc.contributor.authorErdem B.
dc.contributor.authorKaraduman T.
dc.contributor.authorYonem A.
dc.contributor.authorCagiltay E.
dc.date.accessioned2024-08-04T19:59:14Z
dc.date.available2024-08-04T19:59:14Z
dc.date.issued2015
dc.departmentİnönü Üniversitesien_US
dc.description.abstractCentral Diabetes Insipidus (CDI) is caused by a deficiency of antidiuretic hormone and characterized by polyuria, polydipsia and inability to concentrate urine. Our objective was to present the results of the molecular analyses of AVP-neurophysin II (AVP-NPII) gene in a large familial neurohypophyseal (central) DI pedigree. A male patient and his family members were analyzed and the prospective clinical data were collected. The proband applied to hospital for eligibility to be a recruit in Armed Forces. The patient had severe polyuria (20 L/day), polydipsia (20.5 L/day), fatique, and deep thirstiness. CDI was confirmed with the water deprivation-desmopressin test according to an increase in urine osmolality from 162 mOsm/ kg to 432 mOsm/kg after desmopressin acetate injection. To evaluate the coding regions of AVP-NPII gene, polymerase chain reactions were performed and amplified regions were submitted to direct sequence analysis. We detected a heterozygous three base pair deletion at codon 69-70 (207_209delGGC) in exon 2, which lead to a deletion of the amino acid alanine. A three-dimensional protein structure prediction was shown for the deleted AVP-NPII and compared with the wild type. The three base pair deletion may yield an abnormal AVP precursor in neurophysin moiety, but further functional analyses are needed to understand the function of the deleted protein.en_US
dc.identifier.endpage592en_US
dc.identifier.issn0091-7370
dc.identifier.issue5en_US
dc.identifier.pmid26586714en_US
dc.identifier.scopus2-s2.0-84950146086en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage588en_US
dc.identifier.urihttps://hdl.handle.net/11616/90490
dc.identifier.volume45en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAssociation of Clinical Scientistsen_US
dc.relation.ispartofAnnals of Clinical and Laboratory Scienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAVP-NPIIen_US
dc.subjectCentral diabetes insipidusen_US
dc.subjectDeletionen_US
dc.subjectMutationen_US
dc.titleIdentification of a novel deletion in AVP-NPII gene in a patient with central diabetes insipidusen_US
dc.typeArticleen_US

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