Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus

  • Authors:
    • Xiangyu Chen
    • Sheng Deng
    • Hong Xia
    • Lamei Yuan
    • Hongbo Xu
    • Shiyu Tang
    • Hao Deng
  • View Affiliations

  • Published online on: July 28, 2020     https://doi.org/10.3892/etm.2020.9059
  • Pages: 3336-3342
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Abstract

The function and position of the internal organs within the human body are based on left‑right (LR) asymmetry. Human LR asymmetry disorders are characterized by abnormal LR asymmetric arrangement of the internal organs resulting from defective embryonic nodal cilia and nodal signaling pathway. The coiled‑coil domain containing 114 gene (CCDC114) is related to the biogenesis of cilia and attachment of the outer dynein arms (ODAs) to the axoneme of cilia. Mutations in the CCDC114 gene are reported to cause a subtype of primary ciliary dyskinesia (PCD) named ciliary dyskinesia, primary, 20 (CILD20). Patients with CCDC114 mutations present with a type of ciliopathy with high clinical heterogeneity. In the present study, a Han‑Chinese patient with situs inversus was recruited. Exome sequencing was performed on this patient combined with variant validation by Sanger sequencing. A homozygous variant c.584T>C (p.L195P) in the CCDC114 gene was identified as the likely genetic cause for situs inversus in this patient. The findings of our study extend the mutational spectrum of the CCDC114 gene, and contribute to clarifying the pathogenesis of human ciliopathies and benefit genetic counseling.
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October-2020
Volume 20 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Chen X, Deng S, Xia H, Yuan L, Xu H, Tang S and Deng H: Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus. Exp Ther Med 20: 3336-3342, 2020.
APA
Chen, X., Deng, S., Xia, H., Yuan, L., Xu, H., Tang, S., & Deng, H. (2020). Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus. Experimental and Therapeutic Medicine, 20, 3336-3342. https://doi.org/10.3892/etm.2020.9059
MLA
Chen, X., Deng, S., Xia, H., Yuan, L., Xu, H., Tang, S., Deng, H."Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus". Experimental and Therapeutic Medicine 20.4 (2020): 3336-3342.
Chicago
Chen, X., Deng, S., Xia, H., Yuan, L., Xu, H., Tang, S., Deng, H."Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus". Experimental and Therapeutic Medicine 20, no. 4 (2020): 3336-3342. https://doi.org/10.3892/etm.2020.9059