Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
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CASE REPORT
Open Access
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report Fuad Al Mutairi1,2* , Randa Alkhalaf1, Abdullah Alkhorayyef3, Fayhan Alroqi2,4, Alyafee Yusra2, Muhammad Umair2, Fetaini Nouf2, Amjad Khan2, Alharbi Meshael2, Aleidi Hamad2, Alaujan Monira2, Abdulaziz Asiri2, Kheloud M. Alhamoudi2 and Majid Alfadhel1,2
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 diseasecausing variants for a highly heterogeneous disorder and reports on the identification of a novel variant in NEK10 which recently associated with PCD. Keywords: NEK10, Immotile-cilia syndrome, Homozygous nonsense variant, Respiratory issues, Genetic testing, Primary Ciliary dyskinesia
Background Cilia are hair-like organelles or structures that extend from the surface of nearly all mammalian cells. They are classified into three different classes such as primary cilia, which are immotile and expressed on many cells during development, nodal cilia found in the embryonic node and motile cilia, which are long thin protrusions * Correspondence: [email protected] 1 Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, P. O Box 22490, Riyadh 11426, Saudi Arabia 2 Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia Full list of author information is available at the end of the article
extending up to 20 mm along the cell surfaces of respiratory epithelium, and falloppian tubes [1, 2]. PCD is also known as immotile-cilia syndrome. It is a rare genetic disorder, inherited in an autosomal recessive fashion that is characterized by progressive recurrent sino-pulmonary disease due to abnormal ciliary structure, function and movement leading to mucus retention and impaired mucociliary clearance in the respiratory system. In PCD, the motile cilia are mainly immotile, however stiff, uncoordinated, and/or ineffective ciliary beats have also been reported [3–5]. The prevalence of PCD estimated to b
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