No abstract available.
Kartagener Syndrome*

Humans ; Kartagener Syndrome

Abetalipoproteinemia ; Cilia ; Humans ; Kartagener Syndrome

Adult ; Female ; Humans ; Kartagener Syndrome

Child ; Humans ; Kartagener Syndrome ; diagnosis ; therapy ; Male

Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and specificity to accurately diagnose PCD. Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. So far more than 40 genes have been associated with PCD, but most research have focused on common genes, which hinders our understanding of other rare PCD-genes. This review has summarized the PCD-associated genes and the corresponding characteristics of dysfunctional cilia, with an aim to provide a basis for early identification of such diseases.
Cilia/genetics* ; Genetic Testing ; Humans ; Kartagener Syndrome/genetics* ; Sensitivity and Specificity

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
Chronic Disease ; Cilia/pathology* ; Humans ; Kartagener Syndrome/genetics* ; Phenotype ; Sinusitis

The authors present a case of brain abscess in a patient with primary mucociliary transport failure. Primary mucociliary transport failure is unfamiliar term to neurosurgeon. It encompasses three hereditary disorders, that is, primary ciliary dyskinesia, cystic fibrosis and Young's syndrome. Clinical manifestations in these disorders appear to overlap each other, e.g., male infertility and chronic sinopulmonary infections. These are characterized by ciliary dysfunction or abnormality of mucus secretion therefore recurrent infection occurs in organs containing the mucociliary transport system. Major causes of non-traumatic brain abscess are sinusitis and pulmonary infection. So the possibility of brain abscess is much higher if mucociliary transport failure exists. Especially, young patients who have brain abscess coexisting with chronic sinopulmonary infection should be considered primary mucociliary transport failure.
Brain Abscess* ; Brain* ; Cystic Fibrosis ; Humans ; Infertility, Male ; Kartagener Syndrome ; Male ; Mucociliary Clearance* ; Mucus ; Sinusitis

Primary ciliary dyskinesia encompasses a heterogenous group of inherited condition characterized by clinical, functional, and ultrastructural features. The transmission electronmicroscopic findings of nasal cilia in a 14-year old girl with primary ciliary dyskinesia were studied. The ultrastructure of axonemes showed normal outer membrane, dynein arms, microtubules, and nexin links but partial lack of radial spokes. The nature of the defective spoke is not clear and further studies will be necessary to determine how the radial spokes and central sheath interact and coordinate ciliary movement.
Adolescent ; Arm ; Axoneme ; Cilia ; Dyneins ; Female ; Humans ; Kartagener Syndrome* ; Membranes ; Microtubules

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Kartagener syndrome (KTS). METHODS: Trio-whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. Changes in protein structure due to missense variants were simulated and analyzed, and the Human Splicing Finder 3.0 (HSF 3.0) online platform was used to predict the effect of the variant of the non-coding region. RESULTS: The child had featured bronchiectasis, sinusitis and visceral inversion. Genetic testing revealed that he has harbored compound heterozygous variants of the DNAH5 gene, namely c.5174T>C and c.7610-3T>G. Sanger sequencing confirmed the existence of the variants. The variants were not found in the dbSNP, 1000 Genomes, ExAC, ClinVar and HGMD databases. Protein structural analysis suggested that the c.5174T>C (p.Leu1725Pro) variant may affect the stability of local structure and its biological activity. The results of HSF 3.0 analysis suggested that the c.7610-3T>G variant has probably destroyed a splicing receptor to affect the transcription process. CONCLUSION The compound heterozygous variants of the DNAH5 gene probably underlay the pathogenesis in the child. Above finding may facilitate the understanding of the clinical characteristics and genetic basis of KTS, and further expand the spectrum of DNAH5 gene variants.
Male ; Humans ; Child ; Mutation ; Kartagener Syndrome/genetics* ; Genetic Testing ; Mutation, Missense ; Exome Sequencing ; Axonemal Dyneins/genetics*