Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly(23)->Val in neurophysin II

被引:41
作者
Gagliardi, PC
Bernasconi, S
Repaske, DR
机构
[1] CHILDRENS HOSP, MED CTR, DIV ENDOCRINOL, CINCINNATI, OH 45229 USA
[2] UNIV MODENA, DIPARTIMENTO SCI GINECOL OSTETR & PEDIAT, I-41100 MODENA, ITALY
关键词
D O I
10.1210/jc.82.11.3643
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disease caused by progressive degeneration of the magnocellular neurons of the hypothalamus leading to decreased ability to produce the hormone arginine vasopressin (AVP). Affected individuals are not symptomatic at birth, but usually develop diabetes insipidus at 1-6 yr of age. The genetic locus of the disease is the AVP-neurophysin Il (NPII) gene, and mutations that cause ADNDI have been found in both the signal peptide of the prepro-AVP-NPII precursor and within NPII itself. An affected girl who presented at 9 months of age and her similarly affected younger brother and father were all found to have a novel missense mutation (G(1758) --> T) encoding the amino acid substitution Gly(23) --> Val within NPII. The mutation was confirmed by restriction endonuclease analysis. A T1-weighted magnetic resonance imaging of the father's pituitary gland demonstrates an attenuated posterior pituitary bright spot. This mutation may be valuable for developing models of dominantly inherited neurodegeneration, as the early age of onset of symptoms suggests that this mutation may be particularly deleterious to the magnocellular neuron.
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页码:3643 / 3646
页数:4
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