AI Article Synopsis
- Primary Ciliary Dyskinesia (PCD) is an autosomal recessive disorder affecting cilia function, leading to respiratory issues in children, with increasing understanding through genetic testing.
- A case study of two siblings with PCD revealed a specific genetic variant in the NEK10 gene associated with the disorder, supported by whole exome sequencing and protein analysis.
- The findings emphasize the importance of NEK10 in cilia assembly and highlight the difficulties in pinpointing genetic causes in diverse disorders like PCD.
Article Abstract
Background: Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increasing with the advancement of genetic and molecular testing.
Case Presentation: Here in, we report two siblings with a classical clinical and radiological presentation of PCD. Using whole exome sequencing we identified a homozygous truncating variant (c.3402 T > A); p.(Tyr1134*) in the NEK10 gene. Western bolt analysis revealed a decrease in the expression of NEK10 protein in the patient cells.
Conclusions: NEK10 plays a central role in the post-mitotic process of cilia assembly, regulating ciliary length and functions during physiological and pathological status. This study highlights the challenges of identifying disease-causing variants for a highly heterogeneous disorder and reports on the identification of a novel variant in NEK10 which recently associated with PCD.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229615 | PMC |
| http://dx.doi.org/10.1186/s12890-020-1175-1 | DOI Listing |
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