Copyright
©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease
Katarína Skalická, Gabriela Hrčková, Anita Vaská, Ágnes Baranyaiová, László Kovács, Laboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children’s Hospital, Bratislava 83340, Slovakia
Author contributions: Skalická K and Kovács L substantially contributed to the design of the study; Skalická K, Hrčková G, Vaská A and Baranyaiová A performed the research and analyzed of data; all authors drafted the article and approved the final version of the article to be published.
Supported by Slovak Research and Development Agency under Contract, No. APVV-14-0234.
Institutional review board statement: Our study was approved by the Children’s University Hospital Ethics Committee and informed consent was provided by all patients at the inception of the study.
Conflict-of-interest statement: The authors have declared that no conflict of interest exists.
Data sharing statement: No additional data are available.
ARRIVE guidelines statement: In our study, ARRIVE Guidelines have been adopted.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Katarína Skalická, MSc, PhD, Research Scientist, Laboratory Diagnostician in Clinical Genetics and Researcher, Laboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children’s Hospital, Limbova 1, Bratislava 83340, Slovakia. genlab@dfnsp.sk
Telephone: +421-2-59371873 Fax: +421-2-59371850
Received: December 12, 2017
Peer-review started: December 13, 2017
First decision: December 27, 2017
Revised: December 31, 2017
Accepted: February 4, 2018
Article in press: February 4, 2018
Published online: March 6, 2018
Peer-review started: December 13, 2017
First decision: December 27, 2017
Revised: December 31, 2017
Accepted: February 4, 2018
Article in press: February 4, 2018
Published online: March 6, 2018
Core Tip
Core tip: Many studies have confirmed that the loss of primary cilia promotes renal cyst formation in autosomal dominant polycystic kidney disease (ADPKD). However, these studies are based on mouse models by the inactivation of various ciliary genes, and the actual status of these genes in human ADPKD tissues is unknown. In our study, we analyzed genetic defects in ciliary genes in the human polycystic kidney tissues and matched normal kidney tissues by next-generation sequencing. We found that the loss of the primary cilia in the human ADPKD tissues may be predominantly caused by defects of centrosomal proteins and KIF19 protein.