Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

@article{Wat2012MouseMR,
  title={Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.},
  author={Margaret J Wat and Tyler F. Beck and Andr{\'e}s Hern{\'a}ndez-Garc{\'i}a and Zhiyin Yu and Danielle C M Veenma and M{\'o}nica G. Garc{\'i}a and Ashley M. Holder and Jeanette J Wat and Yuqing Chen and Carrie A Mohila and Kevin Patrick Lally and Mary Kathryne Dickinson and D Tibboel and Annelies J E M M de Klein and Brendan Lee and Daryl A Scott},
  journal={Human molecular genetics},
  year={2012},
  volume={21 18},
  pages={4115-25}
}
Recurrent microdeletions of 8p23.1 that include GATA4 and SOX7 confer a high risk of both congenital diaphragmatic hernia (CDH) and cardiac defects. Although GATA4-deficient mice have both CDH and cardiac defects, no humans with cardiac defects attributed to GATA4 mutations have been reported to have CDH. We were also unable to identify deleterious GATA4 sequence changes in a CDH cohort. This suggested that haploinsufficiency of another 8p23.1 gene may contribute, along with GATA4, to the… CONTINUE READING
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