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      A Novel Arginine Vasopressin-Neurophysin II Mutation Causes Autosomal Dominant Neurohypophyseal Diabetes insipidus and Morphologic Pituitary Changes

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          To determine the genetic basis of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) in a Cypriot family, we ascertained and studied a large, four-generation kindred in which all participating family members had arginine vasopressin-neurophysin II (AVP-NP-II) gene analyses done. A G to A transition was found by DNA sequence analysis at position 1773 (G1773A) of the AVP-NPII gene which is predicted to encode a substitution of tyrosine for cysteine in codon 59 (CYS59TYR). The mutation was confirmed by restriction endonuclease analysis of PCR amplification products that contain the corresponding segment of the AVP-NPII gene. To clarify the morphologic status of the pituitaries of family members, 12 affected and 3 nonaffected members had magnetic resonance imaging (MRI) studies. The bright spot of the posterior pituitary lobe was completely absent in 75% and faintly identified in 25% of the affected members who were examined with MRI. We conclude that (1) a novel G1773A transition in exon 2 of the AVP-NPII gene causes ADNDI in the large Cypriot kindred studied, (2) this mutation is predicted to encode a CYS59TYR substitution in NPII, and (3) MRI studies of the posterior pituitary lobes of affected family members show either a decreased intensity or a complete absence of the bright spot in all cases studied.

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          Most cited references 4

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          Autosomal Dominant Neurohypophyseal Diabetes Insipidus Associated with a Missense Mutation Encoding Gly23->Val in Neurophysin II

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            Heterogeneity in Clinical Manifestation of Autosomal Dominant Neurohypophyseal Diabetes Insipidus Caused by a Mutation Encoding Ala-1->Val in the Signal Peptide of the Arginine Vasopressin/Neurophysin II/Copeptin Precursor

             D. Repaske (1997)
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              Biosynthesis of vasopressin and oxytocin.


                Author and article information

                Horm Res Paediatr
                Hormone Research in Paediatrics
                S. Karger AG
                22 November 2000
                : 53
                : 5
                : 239-245
                aDepartment of Paediatrics, Arch. Makarios III Hospital, Nicosia, bDepartment of Cytogenetics, The Cyprus Institute of Neurology & Genetics, Nicosia, and cMedical Diagnostic Center ‘Agios Therissos’, Nicosia, Cyprus; dDepartment of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tenn., USA
                23573 Horm Res 2000;53:239–245
                © 2000 S. Karger AG, Basel

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                Page count
                Figures: 4, Tables: 2, References: 43, Pages: 7
                Original Paper


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