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Brief Communication

Nature Genetics 30, 143–144 (1 February 2002) | doi:10.1038/ng817

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left|[ndash]|right asymmetry

Heike Olbrich , Karsten H|[auml]|ffner , Andreas Kispert , Alexander V|[ouml]|lkel , Andreas Volz , G|[uuml]|rsel Sasmaz , Richard Reinhardt , Steffen Hennig , Hans Lehrach , Nikolaus Konietzko , Maimoona Zariwala , Peadar G. Noone , Michael Knowles , Hannah M. Mitchison , Maggie Meeks , Eddie M.K. Chung , Friedhelm Hildebrandt , Ralf Sudbrak & Heymut Omran

Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected offspring have situs inversus (reversed organs), which results from randomization of left-right (LR) asymmetry.