ArticleMolecular medicine reports2016
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
Article in Molecular medicine reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.Yonsei medical journal · 2024Article
- Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.Journal of human genetics · 2023Article
- Whole-genome Sequencing Reveals a Novel Structural Variant ofAnnals of laboratory medicine · 2022Article
- Ependymal ciliary motion and their role in congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- A pediatric case of productive cough caused by novel variants in DNAH9.Human genome variation · 2021Article
- Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report.Medicine · 2020Article
- Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.Molecular genetics & genomic medicine · 2020Article
- Article
- A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.Internal medicine (Tokyo, Japan) · 2019Article
- Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.Frontiers in genetics · 2018Article
- Primary ciliary dyskinesia: mechanisms and management.The application of clinical genetics · 2017Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD. In the current study, the patient with PCD was diagnosed at nine years old following several efforts to control intractable airway symptoms. The patient experienced a chronic productive cough beginning in early childhood and had multiple episodes of pneumonia and otitis media with effusion and sinusitis. No situs inversus or other heterotaxias were reported. Serial chest X‑rays exhibited persistent atelectasis and bronchiectasis in the right middle lobe. When the patient was nine years old, electron microscopy of his cilia and genetic analysis were conducted. Electron microscopy of a biopsy specimen from the nasal mucosa indicated loss of the outer dynein arms. Whole‑exome analysis of the genome demonstrated the presence of compound heterozygous mutations in DNAH5: NM_001369.2:c.5983C>T, p.Arg1995X in exon 36 and NM_001369.2:c.9101delG, p.Gly3034ValfsX22 in exon 54; neither of which have been previously reported in the literature in a Japanese patient. Notably, this case is, to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient.
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