Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.

ABSTRACT:

Background

Diffuse panbronchiolitis (DPB) is a sinopulmonary disease mainly affecting Asian populations. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder impairing ciliary structure and function. These two disorders are not easily distinguished by clinical signs and symptoms.

Methods

In 105 Japanese patients with recurrent sinopulmonary infection, initially diagnosed with DPB, and 37 patients with recurrent airway infection diagnosed in adulthood, the deletion allele of DRC1 or CCDC164, recently recognized as a pathogenic PCD gene variant, was searched using a multiplexed PCR-based method, and the deletion breakpoints and other variants around the gene were determined by Sanger sequencing and targeted resequencing.

Results

A large homozygous de

SUBMITTER: Keicho N 

PROVIDER: S-EPMC6978274 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature