Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.
Nori MatsunamiHari ShanmugamLisa BairdJeff StevensJanice L ByrneDouglas C BarnhartCarrie RauMarcia L FeldkampBradley A YoderMark F LeppertH Joseph YostLuca BrunelliPublished in: Birth defects research (2018)
Somatic variants are not common in CDH. To our knowledge, this is the second case of a germline de novo frameshift mutation in NR2F2 in CDH. Since NR2F2 null mice exhibit a diaphragmatic defect, and XIRP2 is implicated in cardiac development, our data suggest the role of these two variants in the etiology of CDH, and possibly cardiac anomalies.