engleski

Gorlin Syndrome Patient with Large Deletion in 9q22.32-q22.33 Detected by Quantitative Multiplex Fluorescent PCR

Background: 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 PTCH1 , a tumor suppressor gene located at 9q22.32. We describe a Gorlin syndrome case with typical features of the syndrome and no mutations in PTCH1 , but with a large deletion of the 9q22 region that has rarely been described. Objective: To fully haracterize the large deletion in the patient. Methods: In order to map the size and position of the deletion, we developed quantitative multiplex fluorescent PCR with polymorphic markers surrounding the PTCH1 gene, followed by long-range PCR and sequencing. Results: The deleted segment of 4.5 Mb in the 9q22.32-22.33 region was determined, and included the entire PTCH1 , its promoter and 22 OMIM genes. Conclusion: We suggest that screening for large deletions should be included in standard mutation screening for Gorlin syndrome patients.

Chromosome deletion ; Gorlin syndrome ; PTCH1 ; Quantitative multiplex fluorescent polymerase chain reaction ; Sequence-tagged sites

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