Skip to main content
. Author manuscript; available in PMC: 2014 May 16.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):175–181. doi: 10.1002/bdra.20226

Figure 1. Identification of the D122FS mutation in an ARS patient.

Figure 1

A. Pedigree of the affected proband showing the D122FS mutation. B. Sequence of the PITX2 fragment from genomic DNA of unaffected and affected members of the family. Deletion of a single base (C) results in a codon frameshift that predicts a truncated protein. C. Schematic representation of the human PITX2a gene showing the relative positions of the homeodomain (HD), the 2 C-terminal mutations, and the 14 amino acid Otp and aristaless homologous region (OAR) (Cox et al., 2002).