A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
AuthorsCasey, Jillian P
Betts, David R
Lucas, Jane S
Lynch, Sally Ann
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CitationA case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 2015, 16 (1):45 BMC Med. Genet.
JournalBMC medical genetics
AbstractPrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. We recently reported the identification of three disease-causing PCD genes in the Irish Traveller population; RSPH4A, DYX1C1 and CCNO. We have since assessed an additional Irish Traveller family with a complex phenotype involving PCD who did not have any of the previously identified PCD mutations.
SponsorsThis work was co-funded by a Medical Research Charities Group grant (MRCG/2013/02) from the Children’s Fund for Health, The Fundraising Office for Temple Street Children’s University Hospital, Dublin, Ireland (R-PAC-2013-06) and the Health Research Board (Ireland). Jillian Casey is supported by a Medical Research Charities Group grant (MRCG/2013/02).
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