ArticleMolecular genetics & genomic medicine2020
Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.
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 11 papers.
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Who cites it
11 citing papers in PubMed, 30 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
- Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2024Article
- FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 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
- Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.Journal of assisted reproduction and genetics · 2023Article
- Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19.International journal of molecular sciences · 2022Article
- DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.Journal of human genetics · 2022Article
- Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.Frontiers in genetics · 2022Article
- Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.Human reproduction (Oxford, England) · 2021Article
- Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiffuse 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.
methodsIn 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.
resultsA large homozygous deletion in DRC1 was identified in three of the 142 patients. Furthermore, heterozygous carriers of the deletion with the same breakpoint were found with the allele frequency of 0.002 in the healthy Japanese population, indicating that this loss-of-function variant may be acting as a common mutation causing PCD in Japanese.
conclusionPCD caused by the DRC1 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.
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