Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Affiliation:	1. Centre for Human Genetics, KU Leuven, University Hospital Leuven, Belgium;2. Department of Pediatrics and Medical Genetics, Universiteit Gent, Gent, Belgium;3. Department of Development and Regeneration, Unit Pregnancy, Foetus and Newborn, KU Leuven, Belgium;4. Department Obstetrics and Gynaecology, University Hospital Leuven, Belgium;1. Department of Radiology, Our Lady''s Children''s Hospital Crumlin, Dublin 12, Ireland;2. Maxillofacial Surgery, Our Lady''s Children''s Hospital Crumlin, Dublin 12, Ireland;3. Department of Orthodontics, Galway University Hospitals, Galway, Ireland;4. Academic Department of Paediatrics, National University of Ireland Galway, Ireland;5. National Centre for Medical Genetics, Our Lady''s Children''s Hospital Crumlin, Dublin 12, Ireland;1. Department of Obstetrics and Gynaecology, University Hospitals Leuven, and Academic Department of Development and Regeneration, Organ System Cluster, Leuven, Belgium;2. TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial);3. Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium;4. Harris Birthright Centre, King''s College Hospital, London, UK;5. Department of Obstetrics, Gynaecology and Reproductive Medicine, Hôpital Antoine Beclere, University Paris Sud, Clamart, France;6. Division of Fetal Surgery, Department of Obstetrics and Prenatal Medicine, University of Bonn, and Department of Obstetrics and Gynecology, University of Cologne, Germany;7. Mater Health Services, Mater Research UQ, Brisbane, Australia;8. BCNatal – Barcelona Center for Maternal–Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain;1. Intensive Care and Department of Pediatric Surgery, Erasmus Medical Center, Sophia Children''s Hospital, Rotterdam, The Netherlands;2. Division of Asthma, Allergy and Lung Biology, MRC & Asthma UK Centre in Allergic Mechanisms of Asthma, King''s College London, Denmark Hill, London, United Kingdom;3. Division of Neonatology, Department of Pediatrics, Radboudumc, Nijmegen, The Netherlands;4. Department of Medical and Surgical Neonatology, Bambino Gesu Children''s Hospital, Rome, Italy;5. Department of Pediatrics, Universitätsmedizin Mannheim, Mannheim, Germany;6. Department of Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands;7. Department of Neonatology, Erasmus Medical Center-Sophia Children''s Hospital, Rotterdam, The Netherlands

Abstract:	Using exome sequencing we identify a heterozygous nonsense mutation in ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia in 2 affected siblings. This mutation displays variable phenotypic expression being present in a third sibling with a mild diaphragmatic eventration and a cardiovascular malformation. The same variant is seen in 2 additional family members, both of whom are asymptomatic, thus highlighting that ZFPM2 haploinsufficiency is associated with reduced penetrance. Our finding adds further evidence for ZFPM2 having a role in diaphragm and cardiovascular development.

Keywords:	Exome sequencing ZFPM2 Congenital diaphragmatic hernia CDH Diaphragm eventration
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