Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

@article{Jamieson2002DomainDA,
  title={Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.},
  author={R V Jamieson and Rahat Perveen and Bronwyn A. Kerr and Martin J.A. Carette and Jill Yardley and Elise H{\'e}on and Maria Gabriela Wirth and Veronica van Heyningen and Di Donnai and Francis L. Munier and Graeme C. M. Black},
  journal={Human molecular genetics},
  year={2002},
  volume={11 1},
  pages={33-42}
}
Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity. We identified a family where ocular developmental abnormalities (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a translocation, t(5;16)(p15.3;q23.2), in both balanced and unbalanced forms. We hypothesized that this altered the expression of a gene of developmental significance in the human lens and ocular anterior segment. Cloning the… CONTINUE READING