title: A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus.
abstract: OBJECTIVE
  Autosomal dominant familial neurohypophyseal diabetes insipidus is a rare disorder characterized by polydipsia and polyuria. We present the results of the molecular analysis of the AVP-NPII gene of a German kindred.
  
  
  METHODS
  All three exons of the gene were amplified by polymerase chain reaction and sequenced.
  
  
  RESULTS
  In 7 affected individuals a new missense mutation (1770G > T) in exon 2 was found predicting a cysteine to phenylalanine substitution at codon 58 in the neurophysin II domain (NPII).
  
  
  CONCLUSIONS
  As a result of this mutation a cysteine residue is exchanged, which is involved in a disulfide bond with cysteine 44 of the NPII moiety, hypothesizing that the resulting misfolded protein may lead to chronic neurotoxicity by accumulation of these products in the endoplasmatic reticulum.
authors.affiliation: Klinik für Kinder und Jugendliche, University of Erlangen-Nürnberg, Erlangen, Germany. matwolf@umich.edu
authors.forename: M T F
authors.initials: MT
authors.lastname: Wolf
authors.forename: J
authors.initials: J
authors.lastname: Dötsch
authors.forename: M
authors.initials: M
authors.lastname: Metzler
authors.forename: M
authors.initials: M
authors.lastname: Holder
authors.forename: R
authors.initials: R
authors.lastname: Repp
authors.forename: W
authors.initials: W
authors.lastname: Rascher
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001127:Arginine Vasopressin / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D020790:Diabetes Insipidus, Neurogenic / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009481:Neurophysins / Q000235:genetics*; D010375:Pedigree
chemical_list: D009481:Neurophysins; D001127:Arginine Vasopressin