2. Academic Validation
  3. Mutations in SOX2 cause anophthalmia

Mutations in SOX2 cause anophthalmia

  • Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120.
Judy Fantes 1,  Nicola K Ragge,  Sally-Ann Lynch,  Niolette I McGill,  J Richard O Collin,  Patricia N Howard-Peebles,  Caroline Hayward,  Anthony J Vivian,  Kathy Williamson,  Veronica van Heyningen,  David R FitzPatrick
Affiliations

Affiliation

  • 1 MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
PMID: 12612584 DOI: 10.1038/ng1120
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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