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Article

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.

Neuroendocrinology - 1 Jan 2018

Kvistgaard Helene, Christensen Jane H, Johansson Jan-Ove, Gregersen Niels, Siggaard Rittig Charlotte, Rittig Søren, Corydon Thomas J

Abstract excerpt

OBJECTIVE: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is characterized by severe polyuria and polydipsia and is caused by variations in the gene encoding the AVP prohormone. This study aimed to ascertain a correct diagnosis, to identify the underlying genetic cause of adFNDI in a Swedish family, and to test the hypothesis that the identified synonymous exonic variant in the AVP gene...

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PMID: 29949799
DOI: 10.1159/000491579

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AVP

Variants

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