ArticleBioscience reports2020
Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.
Article in Bioscience reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- A novel homozygous frameshift mutation in theFrontiers in medicine · 2026Article
- CCDC189 affects sperm flagellum formation by interacting with CABCOCO1.National science review · 2023Article
- AnFrontiers in neurology · 2023Article
- A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.Current medical science · 2022Article
- Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.Journal of cellular and molecular medicine · 2021Article
- NovelFrontiers in cardiovascular medicine · 2021Article
- Article
- Case Report: Identification of a NovelFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease.
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