hrp0089p3-p410 | Multisystem Endocrine Disorders P3 | ESPE2018

A Novel Detrimental Homozygous Mutation of WFS1 Gene in Two Sisters from Non-consanguineous Parents with Untreated Diabetes Insipidus

Papadimitriou Dimitrios T , Kleanthous Kleanthis , Manolakos Emmanouil , Tiulpakov Anatoly , Nikolopoulos Thomas , Delides Alexandros , Voros Gerasimos , Dinopoulos Argyrios , Zoupanos George , Urano Fumihiko

Background: Wolfram syndrome (WS) is a rare autosomal recessive genetic disorder. We present two sisters from non-consanguineous parents, who presented to our pediatric endocrinology clinic due to severe polyuria-polydipsia with inappropriately treated DM (HbA1c 8.2% and 10.1%) and untreated DI.Methods: DNA was tested with PCR amplification and sequencing analysis (Sanger sequencing) of the entire coding region and all exon-intron splice junctions of the...