title: Identification of a Novel Deletion in AVP-NPII Gene in a Patient with Central Diabetes Insipidus.
abstract: Central 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.
authors.affiliation: Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul.
authors.forename: Ferhat
authors.initials: F
authors.lastname: Deniz
authors.affiliation: Department of Molecular Biology and Genetics, Inonu University, Malatya.
authors.forename: Ceren
authors.initials: C
authors.lastname: Acar
authors.affiliation: Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara, Turkey.
authors.forename: Emel
authors.initials: E
authors.lastname: Saglar
authors.affiliation: Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara, Turkey.
authors.forename: Beril
authors.initials: B
authors.lastname: Erdem
authors.affiliation: Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara, Turkey.
authors.forename: Tugce
authors.initials: T
authors.lastname: Karaduman
authors.affiliation: Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul.
authors.forename: Arif
authors.initials: A
authors.lastname: Yonem
authors.affiliation: Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul.
authors.forename: Eylem
authors.initials: E
authors.lastname: Cagiltay
authors.affiliation: Department of Endocrinology and Metabolism, GATA Haydarpasa Teaching Hospital, Istanbul.
authors.forename: Seyit Ahmet
authors.initials: SA
authors.lastname: Ay
authors.affiliation: Department of Biology, Faculty of Science, Hacettepe University, Beytepe, Ankara, Turkey mergen@hacettepe.edu.tr.
authors.forename: Hatice
authors.initials: H
authors.lastname: Mergen
mesh_terms: D000409:Alanine / Q000235:genetics; D020790:Diabetes Insipidus, Neurogenic / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D009481:Neurophysins / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011487:Protein Conformation; D011498:Protein Precursors / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D017384:Sequence Deletion; D014667:Vasopressins / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: C438657:AVP protein, human; D009481:Neurophysins; D011498:Protein Precursors; D014667:Vasopressins; D000409:Alanine
keywords: AVP-NPII; Central diabetes insipidus; Deletion; Mutation