Article
De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
American journal of medical genetics. Part A - 1 Sept 2016
High Frances A, Bhayani Pooja, Wilson Jay M, Bult Carol J, Donahoe Patricia K, Longoni Mauro
Abstract excerpt
COUP-TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of COUP-TFII in mice result in diaphragmatic defects analogous to the human Bochdalek-type hernia phenotype. Despite evidence from animal models however, mutations in the coding sequence of COUP-TFII have not been reported in patients,...
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