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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.
0040-6376
203-205
Best, Sunayna
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Shoemark, Amelia
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Rubbo, Bruna
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Patel, Mitali P.
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Fassad, Mahmoud R.
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Dixon, Mellisa
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Rogers, Andrew V.
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Hirst, Robert A.
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Rutman, Andrew
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Ollosson, Sarah
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Jackson, Claire L.
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Goggin, Patricia
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Thomas, Simon
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Pengelly, Reuben
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Cullup, Thomas
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Pissaridou, Eleni
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Hayward, Jane
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Onoufriadis, Alexandros
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O'Callaghan, Christopher
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Loebinger, Michael R.
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Wilson, Robert
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Chung, Eddie MK
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Kenia, Priti
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Doughty, Victoria L.
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Carvalho, Julena S.
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Lucas, Jane S.
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Mitchison, Hannah M.
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Hogg, Claire
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Best, Sunayna
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Shoemark, Amelia
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Rubbo, Bruna
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Patel, Mitali P.
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Fassad, Mahmoud R.
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Dixon, Mellisa
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Rogers, Andrew V.
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Hirst, Robert A.
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Rutman, Andrew
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Ollosson, Sarah
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Jackson, Claire L.
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Goggin, Patricia
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Thomas, Simon
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Pengelly, Reuben
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Cullup, Thomas
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Pissaridou, Eleni
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Hayward, Jane
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Onoufriadis, Alexandros
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O'Callaghan, Christopher
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Loebinger, Michael R.
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Wilson, Robert
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Chung, Eddie MK
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Kenia, Priti
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Doughty, Victoria L.
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Carvalho, Julena S.
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Lucas, Jane S.
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Mitchison, Hannah M.
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Hogg, Claire
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Best, Sunayna, Shoemark, Amelia, Rubbo, Bruna, Patel, Mitali P., Fassad, Mahmoud R., Dixon, Mellisa, Rogers, Andrew V., Hirst, Robert A., Rutman, Andrew, Ollosson, Sarah, Jackson, Claire L., Goggin, Patricia, Thomas, Simon, Pengelly, Reuben, Cullup, Thomas, Pissaridou, Eleni, Hayward, Jane, Onoufriadis, Alexandros, O'Callaghan, Christopher, Loebinger, Michael R., Wilson, Robert, Chung, Eddie MK, Kenia, Priti, Doughty, Victoria L., Carvalho, Julena S., Lucas, Jane S., Mitchison, Hannah M. and Hogg, Claire (2019) Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax, 74 (2), 203-205. (doi:10.1136/thoraxjnl-2018-212104).

Record type: Article

Abstract

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.

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Best et al 2018 - Accepted Manuscript
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Accepted/In Press date: 23 July 2018
e-pub ahead of print date: 30 August 2018
Published date: 1 February 2019
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Identifiers

Local EPrints ID: 422891
URI: http://eprints.soton.ac.uk/id/eprint/422891
DOI: doi:10.1136/thoraxjnl-2018-212104
ISSN: 0040-6376
PURE UUID: 0faad547-819a-4be4-b4f1-da9fc3e699b8
ORCID for Claire L. Jackson: ORCID iD orcid.org/0000-0002-1200-0935
ORCID for Reuben Pengelly: ORCID iD orcid.org/0000-0001-7022-645X
ORCID for Jane S. Lucas: ORCID iD orcid.org/0000-0001-8701-9975

Catalogue record

Date deposited: 07 Aug 2018 16:31
Last modified: 16 Mar 2024 06:57

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Contributors

Author: Sunayna Best
Author: Amelia Shoemark
Author: Bruna Rubbo
Author: Mitali P. Patel
Author: Mahmoud R. Fassad
Author: Mellisa Dixon
Author: Andrew V. Rogers
Author: Robert A. Hirst
Author: Andrew Rutman
Author: Sarah Ollosson
Author: Claire L. Jackson ORCID iD
Author: Patricia Goggin
Author: Simon Thomas
Author: Reuben Pengelly ORCID iD
Author: Thomas Cullup
Author: Eleni Pissaridou
Author: Jane Hayward
Author: Alexandros Onoufriadis
Author: Christopher O'Callaghan
Author: Michael R. Loebinger
Author: Robert Wilson
Author: Eddie MK Chung
Author: Priti Kenia
Author: Victoria L. Doughty
Author: Julena S. Carvalho
Author: Jane S. Lucas ORCID iD
Author: Hannah M. Mitchison
Author: Claire Hogg

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