Mutations in SOX2 cause anophthalmia.

Authors: Fantes, J  Ragge, NK  Lynch, SA  McGill, NI  Collin, JR  Howard-Peebles, PN  Hayward, C  Vivian, AJ  Williamson, K  Van Heyningen, V  FitzPatrick, DR 
Citation: Fantes J, etal., Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.
Pubmed: (View Article at PubMed) PMID:12612584
DOI: Full-text: DOI:10.1038/ng1120

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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RGD Object Information
RGD ID: 1599088
Created: 2007-01-16
Species: All Species
Last Modified: 2007-01-16
Status: ACTIVE



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