| Literature DB >> 30166424 |
Sunayna Best1,2, Amelia Shoemark2,3, Bruna Rubbo4,5,6, Mitali P Patel1, Mahmoud R Fassad1,7, Mellisa Dixon2, Andrew V Rogers2,8, Robert A Hirst9, Andrew Rutman9, Sarah Ollosson2, Claire L Jackson4,5,6, Patricia Goggin4,5,6, Simon Thomas10,11, Reuben Pengelly10, Thomas Cullup12, Eleni Pissaridou13, Jane Hayward1,12, Alexandros Onoufriadis14, Christopher O'Callaghan9,15, Michael R Loebinger8, Robert Wilson8, Eddie Mk Chung13, Priti Kenia16, Victoria L Doughty17, Julene S Carvalho17,18,19, Jane S Lucas4,5,6, Hannah M Mitchison1, Claire Hogg2.
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. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.Entities:
Keywords: bronchiectasis; paediatric lung disaese; primary ciliary dyskinesia; rare lung diseases
Mesh：
Year: 2018 PMID： 30166424 DOI： 10.1136/thoraxjnl-2018-212104
Source DB: PubMed Journal: Thorax ISSN： 0040-6376 Impact factor: 9.139