Supplementary Data

Matthew A. Lines, Kathy Kozlowski, Stephen C. Kulak, R. Rand Allingham, Elise Heon, Robert Ritch, Alex V. Levin, M. Bruce Shields, Karim F. Damji, Anna Newlin and Michael A. Walter

Files in this Data Supplement:

• qPCR dataset - (300 KB) Excel worksheet containing PITX2 realtime PCR dataset for the patient screen and normal panel. Data format is explained within.

• Microsatellite gels - (42.9 KB) Autoradiographs of the microsatellite gels used to derive the haplotype information in Figure 3.

• Gonioscopy demonstrated an abnormal angle - (188 KB) Clinical photographs of AR malformations in patient 3. Images are of the unoperated (less severe) eye (OD). Panels A and B: Diffuse iris atrophy (note prominent pupillary sphincter) and mild corectopia. Panel C: Gonioscopy reveals an abnormal iris root insertion. Normal angle structures are not clearly distinguishable.

• Realtime qPCR analysis - (53.3 KB) Typical sample data showing simultaneous amplification of PITX2 and Cx40 in two samples, one of which has a PITX2 deletion. The vertical logarithmic scale is given in arbitrary units and represents the change in fluorescence emission at a reporter wavelength during each cycle. Reaction progress (in cycles) is represented on the horizontal axis. The threshold cycle occurs during the exponential phase of the reaction, during the cycle in which the curve crosses the red line shown.