Related Experiment Video
Updated: Oct 11, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular
Samuel LeBlanc1, Eric P Allain2,3,4, Gabriel Girouard5
1Centre de Formation Médicale du Nouveau-Brunswick, Université de Sherbrooke, Moncton, New Brunswick, Canada.
Abstract:
We present a case of a female diagnosed with primary ciliary dyskinesia (PCD) type 21 with non-previously reported extrapulmonary symptoms, including facial features and congenital vascular anomalies. Whole genome sequencing in our patient revealed a homozygous pathogenic variant in the DRC1 gene and no other notable structural nor punctual variants. This case demonstrates a unique clinical manifestation of PCD, which is possibly associated with the presence of a homozygous pathogenic DRC1 variant. Therefore, we suggest that analysis of DRC1 be considered with PCD type 21 when such features are present.
More Related Videos
09:03Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
Mechanism of Ciliary Motion
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy