Evidence map›Paper›PMID 40033371›Full record

SynthesisOrphanet journal of rare diseases2025

Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

  1. Article
  2. Concurrent mutations inAnatomy & cell biology · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Case report: novelFrontiers in genetics · 2026
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Syndromic variants of biliary atresia.World journal of pediatric surgery · 2025
    Review
  12. Pneumonia and bacteremia due toRespiratory medicine case reports · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Meihua Dong *Department of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Xu Shi *Department of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Yawen Zhou *Department of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Jielin DuanDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Li HeDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Xiaonan SongDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Zhiwen HuangDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China.
Ruchong ChenDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China. chen_rch@163.com.
Jing LiDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China. lijing@gird.cn.
Nan JiaDepartment of Allergy and Clinical Immunology, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, the First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou, Guangdong, China. jianan@gzhmu.edu.cn.ORCID http://orcid.org/0000-0002-7164-6947

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrimary ciliary dyskinesia (PCD), a rare ciliopathy disorder, is caused by variants in multiple genes, with DNAH5 being one of the most frequently implicated. However, the precise relationship between variant type or location in the DNAH5 gene and the clinical heterogeneity remains elusive. The present systematic review aims to provide critical insights into the impact of the molecular nature of DNAH5 variants on PCD phenotypes.

methodsWe enrolled all reported cases of PCD with biallelic pathogenic variants in the DNAH5 gene to date, and evaluated genotype-phenotype correlations in these patients, employing truncating (TV) and missense (MV) variant-carrying as grouping criteria.

resultsA total of 323 PCD patients with the DNAH5 variants were included, with 14.55% of these patients were diagnosed as Kartagener syndrome. Pediatric and adult patients exhibited distinct clinical features, including varying incidences of bronchiectasis, infertility, neonatal respiratory distress (NRD), ciliary ultrastructural defects distributions, and lung function (all p < 0.05). With regard to mutational patterns, truncating variants in DNAH5 were clustered in the 1200-3200 amino acid region, and were more prevalent in children compared to adult (p < 0.0001). Most missense variants are clustering in the linker, AAA + ATPase and AAA-lid domains. The most frequently observed mutation, c.10815delT, was prevalent in Europe and America, whereas c.8030G > A was more common in China and Asia. In terms of genotype-phenotype correlations, individuals with the TV/TV genotype exhibited a higher proportion of NRD and earlier onset compared to those with MV-carrying genotypes, both in overall population and in pediatric patients (all p < 0.05). Patients with the TV/TV genotype exhibited worse lung function compared to those with MV-carrying genotypes.

conclusionThe study underscores the broad mutational spectrum and high phenotypic heterogenicity in DNAH5-related PCD patients. The presence of biallelic truncating variants may predispose patients to earlier disease onset and poorer lung function.

Indexed as

Axonemal DyneinsCiliary Motility DisordersCytoplasmic DyneinsGenetic Association StudiesGenotypeHumansMutationPhenotypeAxonemal DyneinsCytoplasmic DyneinsDNAH5 protein, humanDNAH5Genotype–phenotype correlationPrimary ciliary dyskinesia

Identifiers

PMID40033371
PMCPMC11874857

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Registered trials

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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.