Mutations in SOX2 cause anophthalmia.
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.
Fantes
Judy
J
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
Ragge
Nicola K
NK
Lynch
Sally-Ann
SA
McGill
Niolette I
NI
Collin
J Richard O
JR
Howard-Peebles
Patricia N
PN
Hayward
Caroline
C
Vivian
Anthony J
AJ
Williamson
Kathy
K
van Heyningen
Veronica
V
FitzPatrick
David R
DR
D000853:Anophthalmos / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D019992:Databases as Topic; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D024002:HMGB Proteins; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors
D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D024002:HMGB Proteins; D009687:Nuclear Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors