ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.

ABSTRACT: Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping the already known PCD-related genes explains the genetic basis in 60-65% of the cases, depending on the population. While identification of new genes involved in PCD pathogenesis remains crucial, the search for new, population-specific mutations causative for PCD is equally important. The Slavs remain far less characterized in this respect compared to West European populations, which significantly limits diagnostic capability. The main goal of this study was to characterize the profile of causa

SUBMITTER: Kurkowiak M 

PROVIDER: S-EPMC4732763 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature