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

Thorax
Sunayna BestClaire Hogg

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.

References

Aug 31, 2007·Birth Defects Research. Part A, Clinical and Molecular Teratology·Lorenzo D BottoUNKNOWN National Birth Defects Prevention Study
Jul 17, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Margaret W LeighMaimoona A Zariwala
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Mar 1, 2014·Chest·Adam J ShapiroUNKNOWN Genetic Disorders of Mucociliary Clearance Consortium
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Citations

Oct 23, 2019·Circulation. Genomic and Precision Medicine·Tabea Nöthe-MenchenHeymut Omran
Jan 30, 2020·Birth Defects Research·Weicheng ChenLibo Wang
Sep 24, 2019·American Journal of Respiratory Cell and Molecular Biology·Sandra CindrićHeymut Omran
Mar 12, 2020·Archives of Disease in Childhood·Bruna RubboUNKNOWN English National Children’s PCD Management Service
Jun 5, 2020·ERJ Open Research·Cristina Ardura-GarciaClaudia E Kuehni
Sep 19, 2020·Nature Reviews. Disease Primers·Julia WallmeierHeymut Omran
Mar 28, 2019·Frontiers in Genetics·Gabrielle WhewayUNKNOWN Genomics England Research Consortium
Jun 25, 2020·BMC Proceedings·Laura E GardnerClaire Hogg
Nov 30, 2019·Cellular and Molecular Life Sciences : CMLS·Anu SironenHannah M Mitchison
Dec 7, 2020·Seminars in Cell & Developmental Biology·Marie LegendreHannah M Mitchison
Jan 16, 2021·ERJ Open Research·Alex Gileles-HillelOded Breuer
Jun 17, 2021·Pediatric Pulmonology·Pelin AsfurogluAyse Tana Aslan
Jul 15, 2021·Seminars in Respiratory and Critical Care Medicine·Amelia Shoemark, Katharine Harman
Jan 23, 2021·The European Respiratory Journal·Amelia ShoemarkJane S Lucas
Aug 6, 2021·Pediatric Radiology·Michael S FurmanMichael J Callahan
Aug 28, 2021·Cells·Dinu AntonyMiriam Schmidts

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