Evidence map›Paper›PMID 41393159›Full record

ArticleFrontiers in medicine2025

Exome sequencing reanalysis identifies a novel likely pathogenic

Yixuan Li, Wangji Zhou, Wanqing Lu, Qiaoling Chen, Yaqi Wang, Xiaogang Li, Kai-Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

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Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from 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.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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.

Yixuan Li *The State Key Laboratory for Complex, Severe, and Rare Diseases, Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Wangji Zhou *State Key Laboratory of Complex Severe and Rare Diseases, Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Wanqing LuThe State Key Laboratory for Complex, Severe, and Rare Diseases, Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Qiaoling ChenState Key Laboratory of Complex Severe and Rare Diseases, Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Yaqi WangState Key Laboratory of Complex Severe and Rare Diseases, Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Xiaogang LiState Key Laboratory of Complex Severe and Rare Diseases, Biobank Facility, National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Kai-Feng XuState Key Laboratory of Complex Severe and Rare Diseases, Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Xue ZhangState Key Laboratory of Medical Molecular Biology, McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Xinlun TianState Key Laboratory of Complex Severe and Rare Diseases, Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Yaping LiuThe State Key Laboratory for Complex, Severe, and Rare Diseases, Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural or functional abnormalities of motile cilia, characterized by considerable clinical and genetic heterogeneity. Although exome sequencing (ES) can improve the diagnostic rate of PCD, more than 30% of patients with clinically suspected PCD remain undiagnosed by initial ES. The American College of Medical Genetics and Genomics (ACMG) recommends periodic reanalysis of ES data to increase the diagnostic yield. Methods: We investigated a 35-year-old female patient with bronchiectasis and a strong clinical suspicion of PCD from Peking Union Medical College Hospital. The patient's ES data, which had initially yielded negative results in August 2024, was reanalyzed in early 2025 employing a "genotype-phenotype-inheritance pattern" strategy. A minigene assay was conducted to validate the pathogenicity of the identified Results: The patient had a history of rhinitis and neonatal pneumonia. Pulmonary function tests revealed moderate obstructive ventilatory dysfunction. ES reanalysis identified a homozygous variant, Conclusion: This study is the first to describe

Indexed as

CFAP54-related phenotype and genotypeexome sequencing reanalysisminigene assayprimary ciliary dyskinesiasplicing variant

Identifiers

PMID41393159
PMCPMC12698396

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