ArticleInternal medicine (Tokyo, Japan)2024
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia.Internal medicine (Tokyo, Japan) · 2025Article
- Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.BMC genomics · 2025Article
- A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea.Journal of human genetics · 2024Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by motile cilia dysfunction, mostly inherited in an autosomal recessive or X-linked manner. We herein report a 29-year-old woman with PCD caused by a heterozygous frameshift mutation due to a single nucleotide deletion in exon 3 of FOXJ1. Heterozygous de novo mutations in FOXJ1 have been reported as an autosomal-dominant cause of PCD. The patient had situs inversus, congenital heart disease, infertility, and hydrocephalus. However, the nasal nitric oxide level was normal. Long-term macrolide therapy was remarkably effective. This is the first case report of PCD caused by a FOXJ1 variant in Japan.
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Registered trials
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