Novel SOX2 partner-factor domain mutation in a four-generation family

Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2 , cause ocular developmental defects, particularly anophthalmia, in a su...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2009-11, Vol.17 (11), p.1417-1422
Main Authors: Mihelec, Marija, Abraham, Peter, Gibson, Kate, Krowka, Renata, Susman, Rachel, Storen, Rebecca, Chen, Yongjuan, Donald, Jenny, Tam, Patrick PL, Grigg, John R, Flaherty, Maree, Gole, Glen A, Jamieson, Robyn V
Format: Article
Language:English
Subjects:
Anophthalmos - genetics
Bioinformatics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Child, Preschool
Cytogenetics
Female
Fundamental and applied biological sciences. Psychology
Gene Expression
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Human Genetics
Humans
Infant, Newborn
Male
Malformations of the eye
Medical genetics
Medical sciences
Molecular and cellular biology
Mutation
Ophthalmology
Pedigree
SOXB1 Transcription Factors - genetics
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Summary:Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2 , cause ocular developmental defects, particularly anophthalmia, in a subset of patients. Here, we describe a four-generation family with a p.Asp123Gly mutation in the highly conserved partner-factor interaction region of the SOX2 protein, which is important for cell-specific actions of SOX2. The proband in this family has bilateral anophthalmia and several other family members have milder ocular phenotypes, including typical optic fissure coloboma. Expression studies indicate that Sox2 is expressed in the eye at the site of closure of the optic fissure during development. The SOX2 mutation in this family implicates the partner-factor interaction region of SOX2 in contributing to the specificity of SOX2 action in optic fissure closure. Our findings indicate that investigation of SOX2 in a broad range of eye anomaly patients aids in the determination of particular functions of SOX2 in development.
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2009.79