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.
Highlights
Kartagener syndrome (KS) is a subtype of primary ciliary dyskinesia (PCD) and is characterized by bronchiectasis, chronic sinusitis, male infertility, and situs inversus (SI) [1,2]
In KS patients, defective fluid movement basing on cilia across the surface of the respiratory airway multiciliated epithelial cell can impair the mucociliary clearance host-defense mechanisms [5], and the impaired mucociliary clearance may trigger repeated respiratory infections including bronchiectasis and chronic sinusitis [6]
As cilia or flagella are distributed in middle ear, sperm, fallopian tube, brain, and spinal ependymal, KS may be accompanied by conductive deafness, sub- or infertility, ectopic pregnancy, and hydrocephalus [1,7,8]
Summary
Kartagener syndrome (KS) is a subtype of primary ciliary dyskinesia (PCD) and is characterized by bronchiectasis, chronic sinusitis, male infertility, and situs inversus (SI) [1,2]. In KS patients, defective fluid movement basing on cilia across the surface of the respiratory airway multiciliated epithelial cell can impair the mucociliary clearance host-defense mechanisms [5], and the impaired mucociliary clearance may trigger repeated respiratory infections including bronchiectasis and chronic sinusitis [6]. Nodal cilia dysfunction during embryogenesis leads to laterality defects including SI [7]. As cilia or flagella are distributed in middle ear, sperm, fallopian tube, brain, and spinal ependymal, KS may be accompanied by conductive deafness, sub- or infertility, ectopic pregnancy, and hydrocephalus [1,7,8]
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