Mutations in SOX2 cause anophthalmia
J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin… - Nature …, 2003 - nature.com
J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, PN Howard-Peebles, C Hayward…
Nature genetics, 2003•nature.comA 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.
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.
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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