Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Xu, Xuan; Gong, Ping; Wen, Jie

doi:10.1007/s10815-016-0849-3

Cited by 16 publications

(12 citation statements)

References 17 publications

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“…As detailed studies of genetic mutations progressed, Fliegauf et al used immunostaining with antibodies specific for ciliary components to identify ultrastructural defects in specific cilia as a test method to aid in the diagnosis of PCD, and this method has become widely used [47]. In a large-scale study in humans, it was reported that mutations in the DNAH5 gene were mainly concentrated in five exons (34, 50, 63, 76, and 77) and assumed various forms such as nonsense, frameshift, splicing, and missense mutations [48][49][50][51][52].…”

Section: Discussionmentioning

confidence: 99%

Ependymal ciliary motion and their role in congenital hydrocephalus

et al. 2021

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Purpose Since a case of hydrocephalus in humans considered to be caused by ciliary dysfunction was first reported by Greenstone et al. in 1984, numerous papers on the correlation between ciliary function and hydrocephalus have been published. Methods We reviewed the published literature on primary ciliary dyskinesia in humans causing hydrocephalus, focusing on articles specifically examining the relation between ciliary function and hydrocephalus and its treatment. In addition, the authors’ experience is briefly discussed. Results Full texts of 16 articles reporting cases of human hydrocephalus (including ventriculomegaly) due to defects in ependymal ciliary function or primary ciliary dyskinesia observed in clinical practice were extracted. In recent years, studies on animal models, especially employing knockout mice, have revealed genetic mutations that cause hydrocephalus via ciliary dysfunction. However, a few reports on the onset of hydrocephalus in human patients with primary ciliary dyskinesia have confirmed that the incidence of this condition was extremely low compared to that in animal models. Conclusion In humans, it is rare for hydrocephalus to develop solely because of abnormalities in the cilia, and it is highly likely that other factors are also involved along with ciliary dysfunction.

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Section: Discussionmentioning

confidence: 99%

Ependymal ciliary motion and their role in congenital hydrocephalus

et al. 2021

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“…Nevertheless, these variants are very likely to lead to a disrupted CCDC40 protein, and consequently to dysfunction of the CCDC39-CCDC40 complex, which possibly justifies the observed axoneme patterns and the situs inversus totalis . Previous studies found that CCDC40 pathologic variants are often of high impact (Tables S4 and S5) [34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49] and patients presented the worst clinical features [50]. Our data agree with these previous associations, as Patient-1 presented a heterogeneous pattern of cilia axoneme ultrastructural anomalies, higher variation in ciliary beat axis and ciliary deviation, high impact variants, and a more severe phenotype.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Analysis of Children with Kartagener Syndrome

Pereira

Barbosa

Gales

et al. 2019

Cells

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Primary 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.

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“…On the provision of informed consent, 4-mL whole blood samples were collected from the patient, his brother, and his parents, using an EDTA anticoagulant; thereafter, genomic DNA of the patient was extracted using the BloodGen Midi Kit (Beijing ComWin Biotech Co, Ltd, China), as per manufacturer's instructions and as previously described. [13]…”

Section: Methodsmentioning

confidence: 99%

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus

2019

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Introduction:The clinical and genetic characteristics of nephrogenic diabetes insipidus (NDI) were described via assessing 2 cases of NDI patients from a Chinese family.Patient concerns:Two patients who manifest polyuria and polydipsia were admitted to hospital for definite diagnosis.Diagnosis:Water deprivation-vasopressin tests showed that the patients may possess renal-origin diabetes insipidus. All the levels of thyroid-stimulating hormone, luteinizing hormone, follicle stimulation hormone, adrenocorticotropic hormone, prolactin, and growth hormone in both patients were normal. These results were certified that both patients possess a nephropathy-type diabetes insipidus. B-mode ultrasonography and urinalysis test demonstrated that the patient's diabetes insipidus is unlikely to originate from renal organic disease. Remarkably, by nucleotide sequencing, we found a novel mutation c.414_418del in arginine-vasopressin receptor 2 (AVPR2) was related to the disease of NDI.Interventions:Two patients were treated with oral hydrochlorothiazide and indomethacin. In addition, low salt diet and potassium supplementation throughout the patients’ treatment.Outcomes:The clinical symptoms of 2 patients were significantly reduced after targeted therapy.Conclusion:A mutation in AVPR2 was discovered to be associated with NID. It provides a new target for molecular diagnosis of NDI, enabling families to undergo genetic counseling and obtain prenatal diagnoses.

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Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Cited by 16 publications

References 17 publications

Ependymal ciliary motion and their role in congenital hydrocephalus

Ependymal ciliary motion and their role in congenital hydrocephalus

Clinical and Genetic Analysis of Children with Kartagener Syndrome

Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus

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