Supplementary Material for: Gorlin Syndrome Patient with Large Deletion in 9q22.32–q22.33 Detected by Quantitative Multiplex Fluorescent PCR

<i>Background:</i> Gorlin syndrome is a rare autosomal-dominant disorder characterized by a wide range of developmental abnormalities and various tumors. The syndrome is caused by mutations in <i>PTCH1</i>, a tumor suppressor gene located at 9q22.32. We describe a Gorlin syndrome case with typical features of the syndrome and no mutations in <i>PTCH1</i>, but with a large deletion of the 9q22 region that has rarely been described. <i>Objective:</i> To fully characterize the large deletion in the patient. <i>Methods:</i> In order to map the size and position of the deletion, we developed quantitative multiplex fluorescent PCR with polymorphic markers surrounding the <i>PTCH1</i> gene, followed by long-range PCR and sequencing. <i>Results:</i> The deleted segment of 4.5 Mb in the 9q22.32–q22.33 region was determined, and included the entire <i>PTCH1</i>, its promoter and 22 OMIM genes. <i>Conclusion:</i> We suggest that screening for large deletions should be included in standard mutation screening for Gorlin syndrome patients.