@article{41a700e4753c4253b92e3a680b492fc5,
title = "Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia",
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.",
keywords = "bronchiectasis, paediatric lung disaese, primary ciliary dyskinesia, rare lung diseases",
author = "Sunayna Best and Amelia Shoemark and Bruna Rubbo and Patel, {Mitali P.} and Fassad, {Mahmoud R.} and Mellisa Dixon and Rogers, {Andrew V.} and Hirst, {Robert A.} and Andrew Rutman and Sarah Ollosson and Jackson, {Claire L.} and Patricia Goggin and Simon Thomas and Reuben Pengelly and Thomas Cullup and Eleni Pissaridou and Jane Hayward and Alexandros Onoufriadis and Christopher O'Callaghan and Loebinger, {Michael R.} and Robert Wilson and Chung, {Eddie Mk} and Priti Kenia and Doughty, {Victoria L.} and Carvalho, {Julene S.} and Lucas, {Jane S.} and Mitchison, {Hannah M.} and Claire Hogg",
note = "This research is supported by the BEAT-PCD: Better Evidence to Advance Therapeutic Options for PCD network (COST Action 1407). Work at the Royal Brompton Hospital was partially supported by the European Society of Cardiology. SB was supported by an Academic Clinical Fellowship funded by the National Institute of Health Research (NIHR) and Imperial College London Biomedical Research Centre (BRC). Work in Southampton is supported by NIHR Respiratory BRC and NIHR Wellcome Trust Clinical Research Facility. Work by AS was independent research funded by a postdoctoral research fellowship from the NIHR and Health Education England. EP, CO{\textquoteright}C and HMM are supported by the NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. HMM acknowledges grants from Action Medical Research (GN2101), Newlife Foundation (10-11/15) and the Great Ormond Street Hospital Children{\textquoteright}s Charity.",
year = "2019",
month = feb,
doi = "10.1136/thoraxjnl-2018-212104",
language = "English",
volume = "74",
pages = "203--205",
journal = "Thorax",
issn = "0040-6376",
publisher = "BMJ Publishing Group",
number = "2",
}