HYDIN variants cause primary ciliary dyskinesia in the Finnish population.

ABSTRACT:

Introduction

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell. Thus far, disease causing variants in over 50 genes have been identified and these variants explain around 70% of all known cases. Population specific genetics underlying PCD has been reported highlighting the importance of characterizing gene variants in different populations for development of gene-based diagnostics and management.

Methods

Whole exome sequencing was used to identify disease causing variants in Finnish PCD cohort. The effect of the identified HYDIN variants on cilia str

SUBMITTER: Burgoyne T 

PROVIDER: S-EPMC11601013 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature