Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Schneider, A; Bardakjian, TM; Zhou, J; Hughes, N; Keep, R; Dorsainville, D; Kherani, F; Katowitz, J; Schimmenti, LA; Hummel, M; Fitzpatrick, DR; Young, TL

Published Date

  • November 1, 2008

Published In

Volume / Issue

  • 146A / 21

Start / End Page

  • 2794 - 2798

PubMed ID

  • 18831064

Pubmed Central ID

  • PMC3693575

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.32384


  • eng

Conference Location

  • United States