Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect

Christine Edelbusch, Sandra Cindrić, Gerard W. Dougherty, Niki T. Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran

Research output: Contribution to journalArticlepeer-review

55 Scopus citations

Abstract

Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and central pair (CP) is hallmarked by the absence of laterality defects, subtle beating abnormalities, and unequivocally apparent ultrastructural defects of the ciliary axoneme, making their diagnosis challenging. We identified homozygous loss-of-function mutations in STK36 in one PCD-affected individual with situs solitus. Transmission electron microscopy analysis demonstrates that STK36 is required for cilia orientation in human respiratory epithelial cells, with a probable localization of STK36 between the RS and CP. STK36 screening can now be included for this rare and difficult to diagnose PCD subgroup.

Original languageEnglish
Pages (from-to)964-969
Number of pages6
JournalHuman Mutation
Volume38
Issue number8
DOIs
StatePublished - Aug 2017
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2017 Wiley Periodicals, Inc.

Keywords

  • STK36
  • central pair
  • motile cilia
  • primary ciliary dyskinesia
  • radial spokes

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