ArticleThorax2012
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Article in Thorax, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 132 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
Who cites it
132 citing papers in PubMed, 6 syntheses or guidelines pooled it, 227 citations in OpenAlex.
- The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice.Pediatric pulmonology · 2026Guideline
- Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2017Guideline
- Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants.Journal of human genetics · 2016Pooled it
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.Pediatric pulmonology · 2016Guideline
- Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis.BMC pulmonary medicine · 2015Pooled it
- A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.Ultrastructural pathology · 2014Trial
- Axonemal Dynein Visualized in Primary Cilia via Expansion Microscopy.Cytoskeleton (Hoboken, N.J.) · 2026Article
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Case report: novelFrontiers in genetics · 2026Article
- Article
- The essential role of cytoskeleton and ciliary abnormalities in the development of congenital pulmonary airway malformations.Pediatric surgery international · 2025Article
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
- The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia.Pediatric pulmonology · 2025Article
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.Frontiers in molecular biosciences · 2025Article
- Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.Human genomics · 2024Article
- Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.European journal of human genetics : EJHG · 2024Article
- Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.Orphanet journal of rare diseases · 2024Article
72 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 10 institutions in 3 countries.
Funding
Abstract
rationalePrimary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterised by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognised to have PCD have ultrastructural defects of cilia; however, some patients have clinical manifestations of PCD and low levels of nasal nitric oxide, but normal ultrastructure, including a few patients with biallelic mutations in dynein axonemal heavy chain 11 (DNAH11).
objectivesTo test further for mutant DNAH11 as a cause of PCD, DNAH11 was sequenced in patients with a PCD clinical phenotype, but no known genetic aetiology.
methods82 exons and intron/exon junctions in DNAH11 were sequenced in 163 unrelated patients with a clinical phenotype of PCD, including those with normal ciliary ultrastructure (n=58), defects in outer and/or inner dynein arms (n=76), radial spoke/central pair defects (n=6), and 23 without definitive ultrastructural results, but who had situs inversus (n=17), or bronchiectasis and/or low nasal nitric oxide (n=6). Additionally, DNAH11 was sequenced in 13 subjects with isolated situs abnormalities to see if mutant DNAH11 could cause situs defects without respiratory disease.
resultsOf the 58 unrelated patients with PCD with normal ultrastructure, 13 (22%) had two (biallelic) mutations in DNAH11; and two patients without ultrastructural analysis had biallelic mutations. All mutations were novel and private. None of the patients with dynein arm or radial spoke/central pair defects, or isolated situs abnormalities, had mutations in DNAH11. Of the 35 identified mutant alleles, 24 (69%) were nonsense, insertion/deletion or loss-of-function splice-site mutations.
conclusionsMutations in DNAH11 are a common cause of PCD in patients without ciliary ultrastructural defects; thus, genetic analysis can be used to ascertain the diagnosis of PCD in this challenging group of patients.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.