Journal
HUMAN GENETICS
Volume 128, Issue 1, Pages 51-60Publisher
SPRINGER
DOI: 10.1007/s00439-010-0823-6
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Funding
- Academy of Medical Sciences/The Health Foundation
- Newlife
- VICTA (Visually Impaired Children Taking Action)
- late Henri Ernest Polak Trust
- MACS (Microphthalmia, Anophthalmia Children's Society)
- National Institute for Health Research UK (Moorfields Eye Hospital Biomedical Research Centre)
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Mutations in the visual system homeobox 2 gene (VSX2, also known as CHX10), which encodes a retinal transcription factor from the paired homeobox family, have been implicated in recessive isolated microphthalmia. In this study, we use genome-wide single nucleotide polymorphism homozygosity mapping in unrelated small consanguineous pedigrees and a candidate gene approach to identify three further causative VSX2 mutations (two novel and one previously reported). All affected individuals with homozygous mutations had bilateral anophthalmia or severe microphthalmia with absent vision. In addition, we identified a novel inner retinal dystrophy in two carrier parents suggesting a semidominant effect for this particular VSX2 mutation. A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2.
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