DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

doi:10.1164/rccm.200601-084OC

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Article

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

American journal of respiratory and critical care medicine - 15 Jul 2006

Hornef Nada, Olbrich Heike, Horvath Judit, Zariwala Maimoona A, Fliegauf Manfred, Loges Niki Tomas, Wildhaber Johannes, Noone Peadar G, Kennedy Marcus, Antonarakis Stylianos E, Blouin Jean-Louis, Bartoloni Lucia, Nüsslein Thomas, Ahrens Peter, Griese Matthias, Kuhl Heiner, Sudbrak Ralf, Knowles Michael R, Reinhardt Richard, Omran Heymut

Abstract excerpt

RATIONALE: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components. METHODS: We screened 109 white PCD families originating from Europe and North America for presence of DNAH5...

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Identifiers

PMID: 16627867
DOI: 10.1164/rccm.200601-084OC
PMCID: PMC2662904

Genes

DNAH5
DNAI1

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