Title: Exome sequencing identifies ZFPM2 as a cause of familial isolated Congenital Diaphragmatic Hernia and possibly cardiovascular malformations
Authors: Brady, Paul
Van Houdt, Jeroen
Callewaert, Björn
Deprest, Jan
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: 2014
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:57 issue:6 pages:247-252
Article number: S1769-7212(14)00091-3
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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
Department of Teacher Training - UC Leuven
Organ Systems (+)
× corresponding author
# (joint) last author

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