How to cite this article: Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, FitzPatrick DR, Young TL. 2008. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters. Am J Med Genet Part A.
Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters†
Version of Record online: 1 OCT 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 21, pages 2794–2798, 1 November 2008
How to Cite
Schneider, A., Bardakjian, T. M., Zhou, J., Hughes, N., Keep, R., Dorsainville, D., Kherani, F., Katowitz, J., Schimmenti, L. A., Hummel, M., FitzPatrick, D. R. and Young, T. L. (2008), Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters. Am. J. Med. Genet., 146A: 2794–2798. doi: 10.1002/ajmg.a.32384
- Issue online: 24 OCT 2008
- Version of Record online: 1 OCT 2008
- Manuscript Accepted: 13 APR 2008
- Manuscript Received: 15 MAR 2007
- Albert Einstein Society of the Albert Einstein Healthcare Network
- Albert B. Millett Memorial Fund
- Mellon Mid-Atlantic Charitable Trust
- The Rae S. Uber Trust
- A Mellon Mid-Atlantic Charitable Trust
- NIH. Grant Numbers: RO1 EY014685, 2PEY01583
- Research To Prevent Blindness, Inc.
- The Mabel E. Leslie Endowment Funds
- NIH/NCRR. Grant Number: Mo1-RR-000240
- SOX2 anophthalmia syndrome
The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10–15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19. The hypothetical protein product is predicted to lead to haploinsufficient SOX2 function. Mosaicism for this mutation in the SOX2 gene was also identified in their clinically unaffected mother in peripheral blood DNA. Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband. © 2008 Wiley-Liss, Inc.