A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus

Purpose Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI. Method...

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Bibliographic Details
Published in:Journal of endocrinological investigation 2016-03, Vol.39 (3), p.285-290
Main Authors: Ilhan, M., Tiryakioglu, N. O., Karaman, O., Coskunpinar, E., Yildiz, R. S., Turgut, S., Tiryakioglu, D., Toprak, H., Tasan, E.
Format: Article
Language:English
Subjects:
Adult
Case-Control Studies
Diabetes Insipidus, Neurogenic - diagnosis
Diabetes Insipidus, Neurogenic - genetics
Endocrinology
Family
Female
Follow-Up Studies
Humans
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Middle Aged
Mutation - genetics
Neurophysins - genetics
Original Article
Pedigree
Prognosis
Protein Precursors - genetics
Turkey
Vasopressins - genetics
Young Adult
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Summary:Purpose Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI. Methods Four patients with neurohypophyseal diabetes insipidus and ten healthy members of the family were studied. Diabetes insipidus was diagnosed by the water deprivation test in affected family members. Mutation analysis was performed by sequencing the whole coding region of AVP-NPII gene using DNA isolated from peripheral blood samples. Results Urine osmolality was low (C in all patients. Conclusion c.-3A>C mutation in 5′UTR of AVP gene in this family might lead to the truncation of signal peptide, aggregation of AVP in the cytoplasm instead of targeting in the endoplasmic reticulum, thereby could disrupt AVP secretion without causing neuronal cytotoxicity, which might explain the presence of bright spot. The predicted effect of this mutation should be investigated by further in vitro molecular studies.
ISSN:1720-8386
1720-8386
DOI:10.1007/s40618-015-0357-9