Open AccessIs there a common cause for paediatric Cushing’s disease?
Author(s) -
Katarzyna Pasternak-Pietrzak,
Fabio R. Faucz,
Constantine A. Stratakis,
Elżbieta Moszczyńska,
Marcin Roszkowski,
Wiesława Grajkowska,
Maciej Pronicki,
Mieczysław Szalecki
Publication year - 2021
Publication title -
endokrynologia polska
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.413
H-Index - 27
eISSN - 2299-8306
pISSN - 0423-104X
DOI - 10.5603/ep.a2020.0073
Subject(s) - sanger sequencing , cushing's disease , medicine , exon , gene , disease , population , gastroenterology , mutation , pediatrics , pathology , genetics , biology , environmental health
According to recent literature, somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most common changes in patients with Cushing's disease (CD). Data on the frequency of these mutations in the paediatric population are limited. The aim of the presented study was to determine the frequency of the USP8 gene mutations in a group of paediatric patients with CD treated at the Children's Memorial Health Institute (CMHI).