Title: Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Authors: Longoni, Mauro ×
Lage, Kasper
Russell, Meaghan K
Loscertales, Maria
Abdul-Rahman, Omar A
Baynam, Gareth
Bleyl, Steven B
Brady, Paul
Breckpot, Jeroen
Chen, Chih P
Devriendt, Koenraad
Gillessen-Kaesbach, Gabriele
Grix, Arthur W
Rope, Alan F
Shimokawa, Osamu
Strauss, Bernarda
Wieczorek, Dagmar
Zackai, Elaine H
Coletti, Caroline M
Maalouf, Faouzi I
Noonan, Kristin M
Park, Ji H
Tracy, Adam A
Lee, Charles
Donahoe, Patricia K
Pober, Barbara R #
Issue Date: Dec-2012
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:158A issue:12 pages:3148-3158
Article number: 10.1002/ajmg.a.35665
Abstract: Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high-resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub-band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein-protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated GATA4, NEIL2, and SOX7 in diaphragmatic defects. Sequence analysis of these genes in 226 chromosomally normal CDH patients, as well as in a small number of deletion 8p23.1 patients, showed rare unreported variants in the coding region; these may be contributing to the diaphragmatic phenotype. We also demonstrated that two of these three genes were expressed in the E11.5-12.5 primordial mouse diaphragm, the developmental stage at which CDH is thought to occur. This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes and their interaction networks. © 2012 Wiley Periodicals, Inc.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Cytogenetics and Genome Research
Laboratory for Genetics of Human Development
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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