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
  • 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.