Heterozygous mutations of OTX2 cause severe ocular malformations.

@article{Ragge2005HeterozygousMO,
  title={Heterozygous mutations of OTX2 cause severe ocular malformations.},
  author={Nicola K. Ragge and Alison McKenney Brown and Charlotte M. Poloschek and Birgit Lorenz and Ruth A. Henderson and Michael P. Clarke and Isabelle Russell-Eggitt and Alistair Fielder and Dianne Gerrelli and Juan Pedro Martinez-Barbera and Piers Ruddle and Jane A. Hurst and J. Richard O. Collin and Alison T Salt and Simon Timothy Cooper and Pamela Felder Thompson and Sanjay M. Sisodiya and Kathleen A. Williamson and David R. FitzPatrick and Veronica van Heyningen and Isabel M. Hanson},
  journal={American journal of human genetics},
  year={2005},
  volume={76 6},
  pages={
          1008-22
        }
}
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations. The expression pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in… CONTINUE READING

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