ArticleChest2021
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
Article in Chest, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
63 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Systematic Reanalysis of Whole-Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Article
- [Report of 24 cases of primary ciliary dyskinesia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Article
- Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2026Article
- Genetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in China.Orphanet journal of rare diseases · 2026Article
- PCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a multicenter derivation and external validation study.BMC medicine · 2026Article
- Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Biallelic TruncatingInternational journal of molecular sciences · 2026Review
- Case report: novelFrontiers in genetics · 2026Article
- CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice.International journal of biological sciences · 2026Article
- Three pediatric patients with dual rare genetic diagnoses: genetic and clinical findings.American journal of translational research · 2026Article
- BiallelicFrontiers in genetics · 2026Article
- DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Orphanet journal of rare diseases · 2025Article
- The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.Prenatal diagnosis · 2025Article
- TwoAsian journal of urology · 2025Article
- The Role of Pulmonary Genetic Variations in the Pathogenesis of Pediatric Postinfectious Bronchiolitis Obliterans.Thoracic research and practice · 2025Article
- Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.Orphanet journal of rare diseases · 2025Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum among populations worldwide. Few cases of pediatric PCD have been reported from China. RESEARCH QUESTION: What are the clinical and genotypic characteristics of children with PCD in China? STUDY DESIGN AND
methodsClinical characteristics, laboratory findings, and genetic results obtained for 75 patients with PCD were reviewed retrospectively at a single center in China. Genetic sequencing was conducted using whole-exome screening.
resultsPatient median age at diagnosis was 7.0 years (range, 2 months-14 years). Of 75 patients, 88% (66/75) had chronic wet cough, 77% (58/75) had recurrent sinusitis, 76% (57/75) had bronchiectasis, 40% (30/75) had neonatal respiratory distress, and 28% (21/75) had coexistent asthma. Notably, postinfectious bronchiolitis obliterans (PIBO) as first presentation was found in 8% of children (6/75). Genes with the highest incidence of mutations were DNAH11 (15/51), followed by DNAH5 (9/51), CCDC39 (5/51), DNAH1 (4/51), and CCNO (3/51). Four genes (DNAI1, HEATR2, RSPH9, and DNAAF3) each were respectively found in two patients, and seven genes (CCDC40, LRRC6, SPAG1, RSPH4A, ARMC4, CCDC114, and DNAH14, a novel gene) each were mutated once. No differences in classical clinical features were observed among patients with commonly observed PCD-associated genotypes. However, three of six PIBO patients carried DNAH1 mutations.
interpretationBesides typical clinical features, PIBO was observed as the first presentation of pediatric PCD in China. An association of the novel gene DNAH14 with PCD was observed, expanding the PCD genotypic spectrum.
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