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Clinical and Genetic Analysis of Children with Kartagener Syndrome

2019-08-15Journal article Open access
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dc.contributor.authorPereira, R.
dc.contributor.authorBarbosa, T.
dc.contributor.authorGales, L.
dc.contributor.authorOliveira, E.
dc.contributor.authorSantos, R.
dc.contributor.authorOliveira, J.
dc.contributor.authorSousa, M.
dc.date.accessioned2020-05-05T14:01:00Z
dc.date.available2020-05-05T14:01:00Z
dc.date.issued2019-08-15
dc.description.abstractPrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia causing ineffective mucus clearance and organ laterality defects. In this study, two unrelated Portuguese children with strong PCD suspicion underwent extensive clinical and genetic assessments by whole-exome sequencing (WES), as well as ultrastructural analysis of cilia by transmission electron microscopy (TEM) to identify their genetic etiology. These analyses confirmed the diagnostic of Kartagener syndrome (KS) (PCD with situs inversus). Patient-1 showed a predominance of the absence of the inner dynein arms with two disease-causing variants in the CCDC40 gene. Patient-2 showed the absence of both dynein arms and WES disclosed two novel high impact variants in the DNAH5 gene and two missense variants in the DNAH7 gene, all possibly deleterious. Moreover, in Patient-2, functional data revealed a reduction of gene expression and protein mislocalization in both genes' products. Our work calls the researcher's attention to the complexity of the PCD and to the possibility of gene interactions modelling the PCD phenotype. Further, it is demonstrated that even for well-known PCD genes, novel pathogenic variants could have importance for a PCD/KS diagnosis, reinforcing the difficulty of providing genetic counselling and prenatal diagnosis to families.pt_PT
dc.description.sponsorshipRP was funded by a PhD grant from the National Foundation for Science and Technology (FCT) (Ref.: PD/BD/105767/2014). This work was also supported by the Institutions of the authors and in part by FCT/UMIB (Pest-OE/SAU/UI0215/2014).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPereira R, Barbosa T, Gales L, et al. Clinical and Genetic Analysis of Children with Kartagener Syndrome. Cells. 2019;8(8):900. Published 2019 Aug 15. doi:10.3390/cells8080900pt_PT
dc.identifier.doi10.3390/cells8080900pt_PT
dc.identifier.issn2073-4409
dc.identifier.issn2073-4409
dc.identifier.urihttp://hdl.handle.net/10400.16/2363
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2073-4409/8/8/900pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCCDC40pt_PT
dc.subjectDNAH5pt_PT
dc.subjectDNAH7pt_PT
dc.subjectprimary ciliary dyskinesiapt_PT
dc.subjectsitus inversuspt_PT
dc.subjectwhole-exome sequencingpt_PT
dc.titleClinical and Genetic Analysis of Children with Kartagener Syndromept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceSwitzerlandpt_PT
oaire.citation.issue8pt_PT
oaire.citation.startPage900pt_PT
oaire.citation.titleCellspt_PT
oaire.citation.volume8pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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