title: Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus.
abstract: We describe a novel missense mutant of arginine vasopressin (AVP)-dependent neurohypophyseal diabetes insipidus in an autosomal dominant family. A 54-year-old woman was admitted to our hospital because of thyroidectomy for thyroid cancer. After thyroidectomy she was found to have hypernatremia and polyuria and polydipsia both of which had been present from childhood. She had no obstructive hydronephrosis. Her father, father's younger sister and her third son also had polyuria and polydipsia. Basal plasma AVP concentration at normal plasma osmolality was normal but did not respond to increased plasma osmolality despite hyperosmolality during infusion of hypertonic saline infusion, indicating that plasma AVP secretion was impaired. Sodium concentration in urine and urine osmolality were low and increased after nasal administration of DDAVP. There was a diminished but bright signal of pituitary posterior gland on magnetic resonance T1 weighted image. Molecular genetic analysis demonstrated that the patient and her son had a single heterozygous missense mutation (G-->A) at nucleotide 1829 in 1 AVP allele, yielding an abnormal AVP precursor with lacking Glu-47 in its neurophysin II moiety. The abnormal AVP precursor may be related to the impaired AVP secretion.
authors.affiliation: Department of Internal Medicine, Division of Endocrine and Metabolism, Nagaoka Red Cross Hospital, Nagaoka, Niigata 940-2085, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Miyakoshi
authors.forename: Kyuzi
authors.initials: K
authors.lastname: Kamoi
authors.forename: Takashi
authors.initials: T
authors.lastname: Murase
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Sugimura
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Oiso
mesh_terms: D000328:Adult; D001483:Base Sequence; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D020790:Diabetes Insipidus, Neurogenic / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D007010:Hyponatremia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009481:Neurophysins / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D011141:Polyuria / Q000235:genetics; D011498:Protein Precursors / Q000097:blood / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014667:Vasopressins / Q000097:blood / Q000235:genetics*
chemical_list: C438657:AVP protein, human; D009481:Neurophysins; D011498:Protein Precursors; D014667:Vasopressins; D003894:Deamino Arginine Vasopressin