ArticleJournal of medical genetics2014
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Article in Journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 91 citations in OpenAlex.
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia.Cell discovery · 2026Article
- Novel pathogenic variant inFrontiers in molecular biosciences · 2026Article
- Whole-genome sequencing identifies novel genes for autism in Chinese trios.Science China. Life sciences · 2024Article
- TheCells · 2024Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- Outer dynein arm docking complex subunit 2 polymorphism rs7893462 modulates hepatocellular carcinoma susceptibility and can serve as an overall survival biomarker for hepatitis B virus-related hepatocellular carcinoma after hepatectomy: a cohort study with a long-term follow-up.World journal of surgical oncology · 2023Article
- Genetic characterization of Macaca arctoides: A highlight of key genes and pathways.Primates; journal of primatology · 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
- Review
- The dynamics of protein localisation to restricted zones within Drosophila mechanosensory cilia.Scientific reports · 2022Article
- Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.NPJ genomic medicine · 2022Article
- Using VBIM Technique to Discover ARMC4/ODAD2 as a Novel Negative Regulator of NF-κB and a New Tumor Suppressor in Colorectal Cancer.International journal of molecular sciences · 2022Article
- Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia.Genes · 2022Article
- Subtyping children with asthma by clustering analysis of mRNA expression data.Frontiers in genetics · 2022Article
- Article
- Motile cilia genetics and cell biology: big results from little mice.Cellular and molecular life sciences : CMLS · 2021Review
- Case Report: Novel Biallelic Mutations inFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
21 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, infertility and body axis laterality defects. We applied a next-generation sequencing approach to identify the gene responsible for this phenotype in two consanguineous families. METHODS AND
resultsData from whole-exome sequencing in a consanguineous Turkish family, and whole-genome sequencing in the obligate carrier parents of a consanguineous Pakistani family was combined to identify homozygous loss-of-function mutations in ARMC4, segregating in all five affected individuals from both families. Both families carried nonsense mutations within the highly conserved armadillo repeat region of ARMC4: c.2675C>A; pSer892* and c.1972G>T; p.Glu658*. A deficiency of ARMC4 protein was seen in patient's respiratory cilia accompanied by loss of the distal outer dynein arm motors responsible for generating ciliary beating, giving rise to cilia immotility. ARMC4 gene expression is upregulated during ciliogenesis, and we found a predicted interaction with the outer dynein arm protein DNAI2, mutations in which also cause PCD.
conclusionsWe report the first use of whole-genome sequencing to identify gene mutations causing PCD. Loss-of-function mutations in ARMC4 cause PCD with situs inversus and cilia immotility, associated with a loss of the distal outer (but not inner) dynein arms. This addition of ARMC4 to the list of genes associated with ciliary outer dynein arm defects expands our understanding of the complexities of PCD genetics.
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