Novel Mutant Vasopressin-neurophysin II Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

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 p...

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Bibliographic Details
Published in:Endocrine Journal 2004, Vol.51(6), pp.551-556
Main Authors: MIYAKOSHI, Masashi, KAMOI, Kyuzi, MURASE, Takashi, SUGIMURA, Yoshihisa, OISO, Yutaka
Format: Article
Language:English
Subjects:
Adult
AVP gene
AVP secretion
Base Sequence
Deamino Arginine Vasopressin - therapeutic use
Diabetes Insipidus, Neurogenic - blood
Diabetes Insipidus, Neurogenic - genetics
Familial neurohypophyseal diabetes insipidus
Female
Humans
Hyponatremia - genetics
Male
Middle Aged
Molecular Sequence Data
MRI of posterior gland
Mutation, Missense
Neurophysins - blood
Neurophysins - genetics
Pedigree
Polyuria - genetics
Protein Precursors - blood
Protein Precursors - genetics
Sequence Analysis, DNA
Vasopressins - blood
Vasopressins - genetics
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Summary: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.
ISSN:0918-8959
1348-4540
DOI:10.1507/endocrj.51.551