A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Hdl Handle:
http://hdl.handle.net/10147/559434
Title:
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
Authors:
Casey, Jillian P; Goggin, Patricia; McDaid, Jennifer; White, Martin; Ennis, Sean; Betts, David R; Lucas, Jane S; Elnazir, Basil; Lynch, Sally Ann
Citation:
A 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.
Journal:
BMC medical genetics
Issue Date:
2015
URI:
http://hdl.handle.net/10147/559434
DOI:
10.1186/s12881-015-0192-z
PubMed ID:
26123568
Abstract:
Primary 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.
Item Type:
Article
Language:
en
Keywords:
GENETICS
ISSN:
1471-2350
Sponsors:
This 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).

Full metadata record

DC FieldValue Language
dc.contributor.authorCasey, Jillian Pen
dc.contributor.authorGoggin, Patriciaen
dc.contributor.authorMcDaid, Jenniferen
dc.contributor.authorWhite, Martinen
dc.contributor.authorEnnis, Seanen
dc.contributor.authorBetts, David Ren
dc.contributor.authorLucas, Jane Sen
dc.contributor.authorElnazir, Basilen
dc.contributor.authorLynch, Sally Annen
dc.date.accessioned2015-07-10T09:23:17Zen
dc.date.available2015-07-10T09:23:17Zen
dc.date.issued2015en
dc.identifier.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.en
dc.identifier.issn1471-2350en
dc.identifier.pmid26123568en
dc.identifier.doi10.1186/s12881-015-0192-zen
dc.identifier.urihttp://hdl.handle.net/10147/559434en
dc.description.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.en
dc.description.sponsorshipThis 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).en
dc.language.isoenen
dc.rightsArchived with thanks to BMC medical geneticsen
dc.subjectGENETICSen
dc.titleA case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.en
dc.typeArticleen
dc.identifier.journalBMC medical geneticsen
dc.description.fundingNo fundingen
dc.description.provinceLeinsteren
dc.description.peer-reviewpeer-reviewen

Related articles on PubMed

All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.