ArticleMolecular genetics & genomic medicine2020
Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 42 citations in OpenAlex.
- The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project.European journal of human genetics : EJHG · 2023Trial
- First neonatal case of primary ciliary dyskinesia caused by a pathogenic DRC1 variant presenting with recurrent atelectasis and airway hypersecretion: a case report and literature review.BMC pediatrics · 2026Review
- Immunostaining and Ciliary Movement Analysis in Primary Ciliary Dyskinesia With a Homozygous Deletion Involving Exons 1-4 ofRespirology case reports · 2025Article
- FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2024Article
- Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.Cureus · 2024Article
- Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed NovelPhenomics (Cham, Switzerland) · 2024Article
- Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.Yonsei medical journal · 2024Article
- The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma.PloS one · 2024Article
- X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due toRespirology case reports · 2023Article
- Novel insight into the underlying dysregulation mechanisms of immune cell-to-cell communication by analyzing multitissue single-cell atlas of two COVID-19 patients.Cell death & disease · 2023Article
- Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.Journal of assisted reproduction and genetics · 2023Article
- NovelJournal of clinical medicine · 2022Article
- Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19.International journal of molecular sciences · 2022Article
- The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.The Lancet. Respiratory medicine · 2022Article
- DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.Journal of human genetics · 2022Article
- Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a NovelFrontiers in genetics · 2022Article
- Oviducal gland transcriptomics ofPeerJ · 2022Article
- Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.Human reproduction (Oxford, England) · 2021Article
- A pediatric case of productive cough caused by novel variants in DNAH9.Human genome variation · 2021Article
- Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary 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.
methodsWe 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.
resultsAnalysis 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 gene was found. Sanger sequencing of the PCR product revealed a 27,748-bp biallelic deletion including exons 1-4 of DRC1 with identical breakpoints in all 21 patients. The ciliary ultrastructure of the patients with this CNV showed axonemal disorganization and the loss or gain of central microtubules.
conclusionThe deletion of DRC1 is the major cause of PCD in Japan and this alteration can cause various ciliary ultrastructural abnormalities.
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