Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.

@article{Takenouchi2013ConcurrentDO,
  title={Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.},
  author={Toshiki Takenouchi and Sachiko Nishina and Rika Kosaki and Chiharu Torii and Ritsuko Furukawa and Takao Takahashi and Kenjiro Kosaki},
  journal={European journal of medical genetics},
  year={2013},
  volume={56 1},
  pages={
          50-3
        }
}
BMP4 and OTX2 are master genes in ophthalmogenesis. Mutations of BMP4 and OTX2 often lead to eye defects, including anophthalmia-microphthalmia. A significant degree of variable expressivity has been reported in heterozygous individuals with BMP4 or OTX2 mutation. Interestingly, both BMP4 and OTX2 reside on 14q22, being only 2.8 Mb apart. Previous studies reported that among three patients with 14q22 deletion involving BMP4 and OTX2, all had severe eye defects. The minimal degree of variable… CONTINUE READING
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