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Title: Exome Sequencing Identifies a recessive PIGN splice site mutation as a cause of Syndromic Congenital Diaphragmatic Hernia
Authors: Brady, Paul
Moerman, Philippe
De Catte, Luc
Deprest, Jan
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: Sep-2014
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:57 issue:9 pages:487-93
Article number: S1769-7212(14)00113-X
Abstract: Using exome sequencing we identify a homozygous splice site mutation in the PIGN gene in a foetus with multiple congenital anomalies including bilateral diaphragmatic hernia, cardiovascular anomalies, segmental renal dysplasia, facial dysmorphism, cleft palate, and oligodactyly. This finding expands the phenotypic spectrum associated with homozygous loss of function mutations in PIGN, and adds further support for defective GPI anchor biosynthesis as a cause of developmental abnormalities. We demonstrate that exome sequencing is a valuable approach for the identification of a genetic cause in sporadic cases of MCA due to inherited mutations.
URI: 
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
Translational Cell & Tissue Research
Organ Systems (+)
× corresponding author
# (joint) last author

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