Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.

Methods

We examined 93 Japanese patients with clinically suspected PCD from 84 unrelated families. CNV was examined either by exome sequencing of a PCD gene panel or by whole-exome sequencing (WES). The identified alterations were validated by PCR and Sanger sequencing. Nasal ciliary ultrastructure was examined by electron microscopy.

Results

Analysis of CNV by the panel or WES revealed a biallelic deletion in the dynein regulatory complex subunit 1 (DRC1) gene in 21 patients, which accounted for 49% of the PCD patients in whom a disease-causing

SUBMITTER: Takeuchi K 

PROVIDER: S-EPMC7057087 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature