ArticleMolecular genetics & genomic medicine2015
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 37 citations in OpenAlex.
- Integrated bulk and single-cell RNA-sequencing reveals SPOCK2 as a novel biomarker gene in the development of congenital pulmonary airway malformation.Respiratory research · 2023Article
- The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.The Lancet. Respiratory medicine · 2022Article
- Frequenting Sequencing: How Genetics Teaches Us Cilia Biology.American journal of respiratory cell and molecular biology · 2019Article
- Identification of key pathways and genes in nasopharyngeal carcinoma using bioinformatics analysis.Oncology letters · 2019Article
- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS genetics · 2018Article
- The association between theInternational journal of clinical and experimental pathology · 2018Article
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of motile cilia. Patients with PCD have diverse clinical phenotypes that include chronic upper and lower respiratory tract infections, situs inversus, heterotaxy with or without congenital heart disease, and male infertility, among others. In this report, the carrier frequencies for eleven mutations in eight PCD-associated genes (DNAI1, DNAI2, DNAH5, DNAH11, CCDC114, CCDC40, CCDC65, and C21orf59) that had been found in individuals of Ashkenazi Jewish descent were investigated in order to advise on including them in existing clinical mutation panels for this population. Results showed relatively high carrier frequencies for the DNAH5 c.7502G>C mutation (0.58%), the DNAI2 c.1304G>A mutation (0.50%), and the C21orf59 c.735C>G mutation (0.48%), as well as lower frequencies for mutations in DNAI1, CCDC65, CCDC114, and DNAH11 (0.10-0.29%). These results suggest that several of these genes should be considered for inclusion in carrier screening panels in the Ashkenazi Jewish population.
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