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Mutations in DNAI1 (IC78) Cause Primary Ciliary Dyskinesia*

Peadar G. Noone, MD; Maimoona Zariwala, PhD; Aruna Sannuti, MD; Susan Minnix, RN; Margaret W. Leigh, MD; Johnny Carson, PhD; Michael R. Knowles, MD
Author and Funding Information

*From the Pulmonary/Cystic Fibrosis Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC.

Correspondence to: Peadar G. Noone, MD, Division of Pulmonary/Critical Care Medicine, CB 7248, 7123 Thurston Bowles, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248; e-mail: pnoone@med.unc.edu



Chest. 2002;121(3_suppl):97S. doi:10.1378/chest.121.3_suppl.97S
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Extract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder that is caused by abnormal ciliary ultrastructure and function, and is characterized by defective mucociliary clearance and bronchiectasis. The genetics of PCD are largely unknown and are important because diagnosis may be difficult and the disease may be more common than currently appreciated. Two loss-of-function mutations in an intermediate chain dynein (IC78), that is, DNAI1, have been reported1 in a PCD patient who was lacking ciliary outer dynein arms (ODAs). From a large cohort of PCD families (22; 44 patients) at the University of North Carolina, we selected seven unrelated families in whom there were 13 subjects (7 men) with PCD and clear-cut defects in the ODAs to attempt to identify mutations in the DNAI1 gene.

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