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Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters
Author(s) -
Schneider Adele,
Bardakjian Tanya M.,
Zhou Jie,
Hughes Nkecha,
Keep Rosanne,
Dorsainville Darnelle,
Kherani Femida,
Katowitz James,
Schimmenti Lisa A.,
Hummel Marybeth,
FitzPatrick David R.,
Young Terri L.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32384
Subject(s) - anophthalmia , genetics , medicine , pediatrics , biology , gene , microphthalmia
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.