Article
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
American journal of human genetics - 10 Jan 2013
Knowles Michael R, Leigh Margaret W, Ostrowski Lawrence E, Huang Lu, Carson Johnny L, Hazucha Milan J, Yin Weining, Berg Jonathan S, Davis Stephanie D, Dell Sharon D, Ferkol Thomas W, Rosenfeld Margaret, Sagel Scott D, Milla Carlos E, Olivier Kenneth N, Turner Emily H, Lewis Alexandra P, Bamshad Michael J, Nickerson Deborah A, Shendure Jay, Zariwala Maimoona A
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 14 genes, but they collectively account for only ~60% of all PCD. To identify mutations that cause PCD, we performed exome sequencing on six unrelated probands with ciliary outer dynein arm (ODA) defects....
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