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(Investigative Ophthalmology and Visual Science. 2004;45:3871-3876.)
© 2004 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.04-0641
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Absence of SIX6 Mutations in Microphthalmia, Anophthalmia, and Coloboma

Saima Aijaz,1 Brian J. Clark,1,2,3 Kathleen Williamson,4 Veronica van Heyningen,4 Danny Morrison,4 David FitzPatrick,4 Richard Collin,2 Nicola Ragge,2,5,6 Andrea Christoforou,7 Alison Brown,7 and Isabel Hanson7

1From the Institute of Ophthalmology, University College London, United Kingdom; the 2Moorfields Eye Hospital, London, United Kingdom; 3Pharmagene Laboratories Ltd., Royston, Hertfordshire, United Kingdom; 4MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom; the 5Department of Human Anatomy and Genetics, University of Oxford, United Kingdom; 6Birmingham Childrens Hospital NHS Trust, Diana Princess of Wales Children’s Hospital, Birmingham, United Kingdom; the 7Department of Medical Sciences, University of Edinburgh, Edinburgh, United Kingdom.

PURPOSE. To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.

METHODS. The two exons of the SIX6 gene were amplified by PCR from patients’ genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).

RESULTS. Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects.

CONCLUSIONS. No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.






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