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

Adele Schneider, Tanya M. Bardakjian, Jie Zhou, Nkecha Hughes, Rosanne Keep, Darnelle Dorsainville, Femida Kherani, James Katowitz, Lisa A. Schimmenti, Marybeth Hummel, David R. Fitzpatrick, Terri L. Young

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2794-2798
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number21
DOIs
StatePublished - Nov 1 2008

Keywords

  • Anophthalmia
  • Microphthalmia
  • SOX2 anophthalmia syndrome

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