ArticleBMC medical genetics2015
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 84 citations in OpenAlex.
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- Macrophage Polarization-Related Biomarkers in Epilepsy: Integrated Bioinformatics Analysis and Clinical Validation.Journal of inflammation research · 2026Article
- DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.Orphanet journal of rare diseases · 2025Article
- Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years.Andrology · 2025Review
- Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia.Reproductive biology and endocrinology : RB&E · 2025Article
- Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice.eLife · 2025Article
- Next-Generation Sequencing Infertility Panel in Turkey: First Results.Balkan journal of medical genetics : BJMG · 2024Article
- ZMYND12 serves as an IDAd subunit that is essential for sperm motility in mice.Cellular and molecular life sciences : CMLS · 2024Article
- Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.Frontiers of medicine · 2023Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- The impact of primary ciliary dyskinesia on female and male fertility: a narrative review.Human reproduction update · 2023Review
- Role of mucociliary clearance system in respiratory diseases.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Identification of novel compound heterozygous variants in theFrontiers in molecular biosciences · 2023Article
- A novel frameshift mutation inFrontiers in endocrinology · 2023Article
- NovelThe world journal of men's health · 2022Review
- Genetic Variations and mRNA Expression of GoatCells · 2022Article
- Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia.Diagnostics (Basel, Switzerland) · 2021Review
- Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.American journal of human genetics · 2021Article
- Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Review
- Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including recurrent respiratory infections progressing to permanent lung damage and infertility. CASE PRESENTATION: Here we describe our search to delineate the molecular basis in two affected sisters with clinically diagnosed PCD from a consanguineous Saudi Arabian family, in which all known genes have been excluded. A homozygosity mapping-based approach was utilized that ultimately identified one single affected-shared region of homozygosity using 10 additional unaffected family members. A plausible candidate gene was directly sequenced and analyzed for mutations. A novel homozygous missense aberration (p.Lys1154Gln) was identified in both sisters in the DNAH1 gene that segregated completely with the disease phenotype. Further confirmation of this interesting variant was provided by exome-wide analysis in the proband.
conclusionMolecular variation in DNAH1 may play a role in PCD and its potential contribution should be considered in patients where all known genes are excluded.
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