Abstract
A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation.
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Acknowledgements
We thank all the children and their parents for participating in this study, J. Trent for providing the 3q chromosome paint and W. Bickmore, N. Gilbert and N. Hastie for advice and discussion.
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Fantes, J., Ragge, N., Lynch, SA. et al. Mutations in SOX2 cause anophthalmia. Nat Genet 33, 462–463 (2003). https://doi.org/10.1038/ng1120
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DOI: https://doi.org/10.1038/ng1120
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