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

ConclusionPCD caused by theDRC1 defect is not readily identified by either high ‐speed video‐microscopy or ciliary ultrastructure analysis, posing significant difficulties in reaching a correct diagnosis without the aid of genetic tests. Careful investigation of the causes of sinopulmonary diseases is warranted in Asian populations.

Source: Molecular Genetics & Genomic Medicine - November 7, 2019 Category: Genetics & Stem Cells Authors: Naoto Keicho, Minako Hijikata, Kozo Morimoto, Sakae Homma, Yoshio Taguchi, Arata Azuma, Shoji Kudoh Tags: ORIGINAL ARTICLE Source Type: research