SOX2 anophthalmia syndrome

Nicola K Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J Richard O Collin, Anthony J Vivian, Samantha L Free, Pamela Thompson, Kathleen A Williamson, Sanjay M Sisodiya, Veronica van Heyningen, David R Fitzpatrick

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The SOX2-associated ocular malformations are variable in type, but most often bilateral and severe. Of the nine patients, six had bilateral anophthalmia and two had anophthalmia with contralateral microphthalmia with sclerocornea. The remaining case had anophthalmia with contralateral microphthalmia, posterior cortical cataract and a dysplastic optic disc, and was the only patient to have measurable visual acuity. The relatively consistent extraocular phenotype observed includes: learning disability, seizures, brain malformation, specific motor abnormalities, male genital tract malformations, mild facial dysmorphism, and postnatal growth failure. Identifying SOX2 mutations from large cohorts of patients with structural eye defects has delineated a new, clinically-recognizable, multisystem disorder and has provided important insight into the developmental pathways critical for morphogenesis of the eye, brain, and male genital tract.
Original languageEnglish
Pages (from-to)1-7; discussion 8
JournalThe American Journal of Medical Genetics - Part A (AJMG)
Issue number1
Publication statusPublished - 15 May 2005

Keywords / Materials (for Non-textual outputs)

  • Adolescent
  • Anophthalmos
  • Child
  • DNA
  • DNA Mutational Analysis
  • Female
  • HMGB Proteins
  • Humans
  • Infant
  • Male
  • Mutation
  • SOXB1 Transcription Factors
  • Syndrome
  • Transcription Factors


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