ArticleMolecular genetics & genomic medicine2021
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 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
- Cerebrospinal fluid-driven ependymal motile cilia defects are implicated in multiple sclerosis.Brain : a journal of neurology · 2026Article
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Microvascular autophagy and caspase-3 activation are central regulators of renal fibrosis after ischemia-reperfusion.JCI insight · 2026Article
- Investigating the impact of poly(beta amino) ester-mediated FOXJ1 mRNA delivery on differentiation of primary human bronchial epithelial cells.Biology open · 2026Article
- Article
- The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Review
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.Brain structure & function · 2026Article
- Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes.Frontiers in medicine · 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
- Expression of α-smooth muscle actin in the lateral ventricle wall of spontaneous hydrocephalus animals.The Journal of veterinary medical science · 2025Article
- Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.BMC genomics · 2025Article
- An electronic medical record retrieval system can be used to identify missed diagnosis in patients with primary ciliary dyskinesia.Journal of internal medicine · 2025Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Primary Ciliary Dyskinesia.Pediatrics · 2024Review
- FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2024Article
- Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii.PLoS genetics · 2024Article
- Formation and function of multiciliated cells.The Journal of cell biology · 2024Review
- Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus.Cellular and molecular neurobiology · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundPrimary ciliary dyskinesia (PCD) is a mostly autosomal recessive, genetic disease of abnormal motile cilia function, resulting in bronchiectasis, infertility, organ laterality defects, and chronic otolaryngology disease. Though motile, ependymal cilia influencing cerebrospinal fluid flow in the central nervous system share many aspects of structure and function with motile cilia in the respiratory tract, hydrocephalus is rarely associated with PCD. Recently, pathogenic variants in FOXJ1 (Chr 17q25.1) were identified causing PCD associated with hydrocephalus, reduced respiratory cilia number, axonemal microtubule disorganization, and occurring in a de novo, autosomal dominant inheritance pattern.
methodTwo patients with chronic oto-sino-pulmonary disease and hydrocephalus underwent candidate testing of FOXJ1. Coding region and splice junctions were sequenced and analyzed under the auspices of Genetic Disorders of Mucociliary Clearance Consortium.
resultsUpon sequencing of the entire coding region and splice-junctions, heterozygous, pathogenic variants in FOXJ1 were discovered in exon 3 of two patients: an 11-month-old female with situs inversus totalis (NM_001454.4: c.945delC (p.Phe315Leufs*18)) and a 51 year-old male, post-double lung transplantation (NM_001454.4: c.929_932delACTG (p.Asp310Glyfs*22)). FOXJ1 variants were not detected in the available parents and the siblings of these probands.
conclusionFOXJ1 pathogenic variants cause PCD in a de novo, autosomal dominant inheritance pattern, and are associated with hydrocephalus. Physicians treating patients with hydrocephalus and chronic oto-sino-pulmonary disease should be aware of this PCD association and test for FOXJ1 variants.
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