A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

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

doi:10.1002/ccr3.2494

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Clin Case Rep. 2019 Oct 23;7(12):2355-2357. doi: 10.1002/ccr3.2494. eCollection 2019 Dec.

Affiliations

¹ Department of Pediatric Endocrinology & Diabetes Athens Medical Center Athens Greece.
² Department of Pediatric Endocrinology and Diabetes Attikon University Hospital Athens Greece.
³ Access to Genome Athens-Thessaloniki Athens Greece.
⁴ Department and Laboratory of Inherited Endocrine Disorders Endocrinology Research Centre Moscow Russia.
⁵ Department of Pediatric Otorhinolaryngology Attikon University Hospital Athens Greece.
⁶ Department of Pediatric Otorhinolaryngology Athens Medical Center Athens Greece.
⁷ Department of Pediatric Ophthalmology Athens Medical Center Athens Greece.
⁸ Department of Pediatric Neurology Attikon University Hospital Athens Greece.
⁹ Department of Pediatric Urology Athens Medical Center Athens Greece.
¹⁰ Endocrine Unit Aretaieion Hospital Medical School University of Athens Athens Greece.
¹¹ Washington University School of Medicine St. Louis MO.

Abstract

Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status-maintaining quality of life-are of crucial importance.

Keywords: WFS1 gene; Wolfram syndrome; diabetes insipidus; diabetes mellitus; novel mutation.

Publication types

Case Reports