Pathogenic variants in CLXN encoding the Outer Dynein Arm Docking associated calcium-binding protein calaxin cause primary ciliary dyskinesia.

Rim Hjeij,Isabella Aprea,Marco Poeta,Tabea Nöthe-Menchen,Diana Bracht,Johanna Raidt, Barbara I Honecker,Gerard W Dougherty,Heike Olbrich,Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E M Diderich, Christian Vogelberg,Francesca Santamaria,Heymut Omran

Genetics in medicine : official journal of the American College of Medical Genetics（2023）

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摘要

Our results reveal that pathogenic variants in CLXN cause PCD with defects in the assembly of distal ODAs in respiratory cilia. CLXN should be referred to as ODA-DC associated protein ODAD5.

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关键词

EF-hand,EFCAB1,ODA,ODAD1,ODAD2,ODAD3,ODAD4,primary ciliary dyskinesia,situs ambiguous,situs inversus

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