ArticlePloS one2018
Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Review
- Case Report: A homozygous mutation in theFrontiers in reproductive health · 2025Article
- Identification of novel genetic loci related to dromedary camel (Camelus dromedarius) morphometrics, biomechanics, and behavior by genome-wide association studies.BMC veterinary research · 2024Article
- Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.The Journal of investigative dermatology · 2023Article
- Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.Arthritis & rheumatology (Hoboken, N.J.) · 2023Article
- Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.Journal of assisted reproduction and genetics · 2023Article
- Key gene network related to primary ciliary dyskinesia in hippocampus of patients with Alzheimer's disease revealed by weighted gene co-expression network analysis.BMC neurology · 2022Article
- A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.Internal medicine (Tokyo, Japan) · 2022Article
- Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.Frontiers in genetics · 2022Article
- Article
- Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Article
- Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.Cold Spring Harbor molecular case studies · 2021Article
- Motile cilia genetics and cell biology: big results from little mice.Cellular and molecular life sciences : CMLS · 2021Review
- Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data.Journal of thrombosis and haemostasis : JTH · 2021Article
- A novel hypomorphic allele ofDisease models & mechanisms · 2020Article
- Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.ERJ open research · 2020Article
- Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.Human mutation · 2020Article
- Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia.Cells · 2019Review
- Article
- Two Insertion/Deletion Variants withinAnimals : an open access journal from MDPI · 2019Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.
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