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
MetadataShow full item record
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).
- Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
- Authors: Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN, Ennis S, Slattery D, Lynch SA
- Issue date: 2015 Feb
- [Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].
- Authors: Wang K, Chen X, Guo CY, Liu FQ, Wang JR, Sun LF
- Issue date: 2018 Feb 2
- High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
- Authors: Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM
- Issue date: 2018 Feb
- Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
- Authors: Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M
- Issue date: 2012
- Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
- Authors: Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM, UK10K., Mitchison HM
- Issue date: 2014 Jan