title: Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.
abstract: BACKGROUND
  Familial 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.
  
  
  METHODS
  A 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.
  
  
  CONCLUSIONS
  This 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.
authors.affiliation: Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Room F5-166, 1105 AZ Amsterdam, The Netherlands. m.defost@amc.uva.nl
authors.forename: M
authors.initials: M
authors.lastname: de Fost
authors.forename: A S P
authors.initials: AS
authors.lastname: van Trotsenburg
authors.forename: H M
authors.initials: HM
authors.lastname: van Santen
authors.forename: E
authors.initials: E
authors.lastname: Endert
authors.forename: C
authors.initials: C
authors.lastname: van den Elzen
authors.forename: E J
authors.initials: EJ
authors.lastname: Kamsteeg
authors.forename: D F
authors.initials: DF
authors.lastname: Swaab
authors.forename: E
authors.initials: E
authors.lastname: Fliers
mesh_terms: D000328:Adult; D001127:Arginine Vasopressin / Q000235:genetics*; D002675:Child, Preschool; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D020790:Diabetes Insipidus, Neurogenic / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009481:Neurophysins / Q000235:genetics*
chemical_list: D009481:Neurophysins; D001127:Arginine Vasopressin; D003894:Deamino Arginine Vasopressin