title: Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.
abstract: Familial central diabetes insipidus is an inherited disease of predominant autosomal dominant trait characterized by a deficiency of arginine vasopressin. The arginine vasopressin-neurophysin II ( AVP-NPII) gene consists of three exons and is located on chromosome 20p13 encoding for the precursor protein of AVP. We investigated two Caucasian families with a typical autosomal dominant trait of familial central diabetes insipidus, defined by deficiency of arginine vasopressin. After PCR amplification of exon 1 and exon 2/3, fragments were pooled and purified. Nucleotide sequencing was performed with the Taq DyeDeoxy-terminator cycle sequencing method using nested primers. Two mutations in the coding region of NPII were identified. In family C we found a heterozygous G ==> C missense mutation (AA61) in exon 2 leading to the substitution of cystein with serine. In family D a novel heterozygous nonsense mutation in exon 3 (AA 83, GAG ==> TAG) was indentified, leading to a stop codon instead of glutamine. Both mutations were confirmed by restriction analysis and were found in all affected but not in healthy family members or control subjects. We therefore have identified a missense mutation of the AVP-NPII gene and a novel mutation predicting a truncated protein.
authors.affiliation: Medical Clinic II and at the Center for Molecular Medicine, University of Cologne, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Bullmann
authors.forename: J
authors.initials: J
authors.lastname: Kotzka
authors.forename: T
authors.initials: T
authors.lastname: Grimm
authors.forename: C
authors.initials: C
authors.lastname: Heppner
authors.forename: F
authors.initials: F
authors.lastname: Jockenhövel
authors.forename: W
authors.initials: W
authors.lastname: Krone
authors.forename: D
authors.initials: D
authors.lastname: Müller-Wieland
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001127:Arginine Vasopressin / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D018388:Codon, Terminator / Q000235:genetics; D020790:Diabetes Insipidus, Neurogenic / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D009154:Mutation; D009481:Neurophysins / Q000235:genetics*; D010375:Pedigree
chemical_list: D018388:Codon, Terminator; D009481:Neurophysins; D001127:Arginine Vasopressin