Mutations in SOX2 cause anophthalmia

Judy Fantes, 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

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.
Original languageEnglish
Pages (from-to)461-3
Number of pages3
JournalNature Genetics
Issue number4
Publication statusPublished - 2003


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