Article
Mutations in SOX2 cause anophthalmia.
Nature genetics - 1 Apr 2003
Fantes Judy, Ragge Nicola K, Lynch Sally-Ann, McGill Niolette I, Collin J Richard O, Howard-Peebles Patricia N, Hayward Caroline, Vivian Anthony J, Williamson Kathy, van Heyningen Veronica, FitzPatrick David R
Abstract excerpt
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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