A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family

2013 ◽  
Vol 78 (6) ◽  
pp. 920-925 ◽  
Author(s):  
Dan Ye ◽  
FengQin Dong ◽  
WeiQin Lu ◽  
Zhe Zhang ◽  
XunLiang Lu ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Neurophysin Ii

scholarly journals Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin–neurophysin II gene

2011 ◽  
Vol 165 (1) ◽  
pp. 161-165 ◽  
Author(s):  
M de Fost ◽  
A S P van Trotsenburg ◽  
H M van Santen ◽  
E Endert ◽  
C van den Elzen ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Water Deprivation ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Resonance Imaging ◽  
Exon 2 ◽  
Hyperintense Signal ◽  
The Brain ◽  
Neurophysin Ii

BackgroundFamilial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin–neurophysin II (AVP–NPII) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with autosomal dominant neurohypophyseal DI caused by a novel mutation.CaseA thirty-four-year-old woman and her three-year-old son were evaluated because of polyuria and polydipsia since the age of 1.5 years onwards. Both patients were subjected to a water deprivation test confirming the diagnosis of central DI. Magnetic resonance imaging of the brain of the mother showed a hypothalamus without apparent abnormalities and a relatively small neurohypophysis without a hyperintense signal. Mutation analysis showed a c.322G>T (p.?/p.Glu108X) in Exon 2 of the AVP–NPII gene in both mother and son.DiscussionThis study reports neurohypophyseal DI in a mother and her son due to a novel mutation in Exon 2 of the AVP–NPII gene. Clinical and pathophysiological aspects of this disease are shortly reviewed and discussed.

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

2000 ◽  
Vol 53 (5) ◽  
pp. 239-245 ◽  
Author(s):  
Nicos Skordis ◽  
Philippos C. Patsalis ◽  
Joe A. Hettinger ◽  
Maria Kontou ◽  
Eleni Herakleous ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Neurophysin Ii

A Missense Mutation Encoding Cys67 → Gly in Neurophysin II Is Associated with Early Onset Autosomal Dominant Neurohypophyseal Diabetes Insipidus

2001 ◽  
Vol 72 (1) ◽  
pp. 39-44 ◽  
Author(s):  
Linda A. DiMeglio ◽  
Priscila C. Gagliardi ◽  
James E. Browning ◽  
Charmian A. Quigley ◽  
David R. Repaske
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Early Onset ◽  
Autosomal Dominant ◽  
Neurophysin Ii

scholarly journals Identification of Mutations of the Arginine Vasopressin-Neurophysin II Gene in Two Kindreds with Familial Central Diabetes Insipidus

1998 ◽  
Vol 83 (2) ◽  
pp. 693-696 ◽  
Author(s):  
Christina Heppner ◽  
Jörg Kotzka ◽  
Catharina Bullmann ◽  
Wilhelm Krone ◽  
Dirk Müller-Wieland
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Signal Peptide ◽  
Arginine Vasopressin ◽  
Family Members ◽  
Central Diabetes Insipidus ◽  
Nucleotide Position ◽  
Coding Region ◽  
Control Subjects ◽  
Neurophysin Ii

Familial central diabetes insipidus is transmitted as an autosomal dominant trait with almost complete penetrance. Twenty-three different mutations of the arginine vasopressin-neurophysin II gene have been reported to date, located within the signal peptide-, the arginine vasopressin-, or the neurophysin II-coding region. In the present study two kindreds with familial central diabetes insipidus were examined. The entire coding region of the arginine vasopressin-neurophysin II gene of one affected subject of each family was amplified by PCR and subcloned into a pUC 18 plasmid, and six positive clones were sequenced. After identification of the mutation, direct sequencing was performed on the respective sequence of family members and 28 healthy control subjects. In family A, a missense mutation (C→T) at nucleotide position 280 was detected, predicting the substitution of alanine by valine at position −1 of the signal peptide. All affected subjects were heterozygote for the mutation, whereas none of the unaffected family members or control subjects displayed the mutant sequence. In family B, a missense mutation within the neurophysin II-coding sequence was identified (nucleotide 1757, G→C), predicting the substitution of glycine by arginine at position 23. Again, affected family members were found to be heterozygote for the mutation, which was not observed in unaffected family members or in control subjects. Although the mutation of family A was recently described in 3 other kindreds as well, the mutation within the neurophysin II-coding region represents a novel mutation of the AVP-NP II gene.

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