Mutations in SOX2 cause anophthalmia

Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3.

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.

MeSH terms

  • Anophthalmos / genetics*
  • Chromosomes, Human, Pair 3*
  • Codon, Nonsense
  • DNA Mutational Analysis*
  • DNA-Binding Proteins / genetics*
  • Databases as Topic
  • Family Health
  • Female
  • Gene Deletion
  • HMGB Proteins
  • Heterozygote
  • Humans
  • Introns
  • Male
  • Microphthalmos / genetics
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation
  • Nuclear Proteins / genetics*
  • Phenotype
  • SOXB1 Transcription Factors
  • Transcription Factors

Substances

  • Codon, Nonsense
  • DNA-Binding Proteins
  • HMGB Proteins
  • Nuclear Proteins
  • SOX2 protein, human
  • SOXB1 Transcription Factors
  • Transcription Factors

Associated data

  • GENBANK/AC117415
  • GENBANK/AC125613
  • GENBANK/AL157425
  • GENBANK/AQ473552