Ontology highlight
ABSTRACT:
SUBMITTER: Knowles MR
PROVIDER: S-EPMC3791252 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Knowles Michael R MR Ostrowski Lawrence E LE Loges Niki T NT Hurd Toby T Leigh Margaret W MW Huang Lu L Wolf Whitney E WE Carson Johnny L JL Hazucha Milan J MJ Yin Weining W Davis Stephanie D SD Dell Sharon D SD Ferkol Thomas W TW Sagel Scott D SD Olivier Kenneth N KN Jahnke Charlotte C Olbrich Heike H Werner Claudius C Raidt Johanna J Wallmeier Julia J Pennekamp Petra P Dougherty Gerard W GW Hjeij Rim R Gee Heon Yung HY Otto Edgar A EA Halbritter Jan J Chaki Moumita M Diaz Katrina A KA Braun Daniela A DA Porath Jonathan D JD Schueler Markus M Baktai György G Griese Matthias M Turner Emily H EH Lewis Alexandra P AP Bamshad Michael J MJ Nickerson Deborah A DA Hildebrandt Friedhelm F Shendure Jay J Omran Heymut H Zariwala Maimoona A MA
American journal of human genetics 20130919 4
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 20 genes, but collectively they account for only ∼65% of all PCDs. To identify mutations in additional genes that cause PCD, we performed exome sequencing on three unrelated probands with ciliary outer and inner dynein arm (ODA+IDA) defects. Mutations in SPAG1 were identified in one family ...[more]