May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Screening of SOX2 in Patients With Anophthalmia/Microphthalmia: Identification of New Mutations
Author Affiliations & Notes
  • A. S. Schneider
    Genetics Division, Albert Einstein Medical Center, Philadelphia, Pennsylvania
  • T. M. Bardakjian
    Genetics Division, Albert Einstein Medical Center, Philadelphia, Pennsylvania
  • L. M. Reis
    Division of Human Molecular Embryology, Pediatrics, Medical College of Wisconsin,Children's Research Institute, Milwaukee, Wisconsin
  • R. C. Tyler
    Division of Human Molecular Embryology, Pediatrics, Medical College of Wisconsin,Children's Research Institute, Milwaukee, Wisconsin
  • E. V. Semina
    Division of Human Molecular Embryology, Pediatrics, Medical College of Wisconsin,Children's Research Institute, Milwaukee, Wisconsin
  • Footnotes
    Commercial Relationships  A.S. Schneider, None; T.M. Bardakjian, None; L.M. Reis, None; R.C. Tyler, None; E.V. Semina, None.
  • Footnotes
    Support  NIH Grants EY015518 and EY013606 (EVS), GCRC M01-RR0005, Mellon Mid-Atlantic Charitable Trusts: Rae S. Uber Trust, and Alfred B Millett, Gustavus and Louise Pfeiffer Research Foundation
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1305. doi:https://doi.org/
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      A. S. Schneider, T. M. Bardakjian, L. M. Reis, R. C. Tyler, E. V. Semina; Screening of SOX2 in Patients With Anophthalmia/Microphthalmia: Identification of New Mutations. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1305. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : SOX2 anophthalmia syndrome is a relatively well-described syndrome characterized by bilateral anophthalmia/microphthalmia, learning disabilities, motor delay, brain malformations and micropenis or genital anomalies in males. SOX2 anophthalmia syndrome is considered to be an autosomal dominant condition with most cases resulting from a de novo mutation. Previous studies have reported that using sequence analysis alone 10-15% of individuals with bilateral severe eye malformations and fewer than 3% of individuals with unilateral eye involvement are found to have a heterozygous loss-of-function mutation in the coding region of SOX2 [Fantes et al 2003 ; Ragge et al 2005 ; FitzPatrick, personal observation]. One previous report identified an unaffected mother with mosaicisim for the SOX2 mutation seen in her child.

Methods: : Sequencing of the SOX2 gene in a cohort of 43 affected individuals was performed.

Results: : Sequencing revealed 7 with SOX2 mutations (16%). Five of these individuals had bilateral A/M and two had unilateral A/M. Of the 43 cases screened, 29 had bilateral A/M, 12 had unilateral A/M. There were 2 cases without A/M; one had bilateral aniridia and the other had left anterior segment dysgenesis. Both of those cases were negative for a SOX2 mutation.

Conclusions: : The two cases of unilateral A/M both had missense mutations whereas the remainder of mutations caused frameshift and led to premature stop codons, suggesting a potential genotype/phenotype correlation. In addition, 2 of the cases with bilateral A/M identified to have a SOX2 mutation have a sibling with clinically confirmed A/M. Further molecular studies on these families are pending.Detailed clinical phenotypes and corresponding heterozygous mutations will be presented to support our recommendation that all individuals with anophthalmia/microphthalmia with bilateral or unilateral involvement be screened for mutations in SOX2. In addition family studies will be carried out to investigate the possibility of inherited SOX2 mutations in the 2 cases with a significant family history.

Keywords: genetics • development 
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