title: Mutations in SOX2 cause anophthalmia.
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.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
authors.forename: Judy
authors.initials: J
authors.lastname: Fantes
authors.forename: Nicola K
authors.initials: NK
authors.lastname: Ragge
authors.forename: Sally-Ann
authors.initials: SA
authors.lastname: Lynch
authors.forename: Niolette I
authors.initials: NI
authors.lastname: McGill
authors.forename: J Richard O
authors.initials: JR
authors.lastname: Collin
authors.forename: Patricia N
authors.initials: PN
authors.lastname: Howard-Peebles
authors.forename: Caroline
authors.initials: C
authors.lastname: Hayward
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Vivian
authors.forename: Kathy
authors.initials: K
authors.lastname: Williamson
authors.forename: Veronica
authors.initials: V
authors.lastname: van Heyningen
authors.forename: David R
authors.initials: DR
authors.lastname: FitzPatrick
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D024002:HMGB Proteins; D009687:Nuclear Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors