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

ABSTRACT:

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 mutations by haplotype analyses and/or sequencing.

Results

Haplotype analyses excluded linkage in 26 families. In 30 PCD families, we identified 33 novel (12 nonsense, 8 frameshift, 5 splicing, and 8 missense mutations) and two known DNAH5 mutations. We observed clustering of mutations within five exons harboring 27 mutant alleles (52%) of the 52 detected mutant all

SUBMITTER: Hornef N 

PROVIDER: S-EPMC2662904 | biostudies-literature | 2006 Jul

REPOSITORIES: biostudies-literature