Original Paper

Gorlin Syndrome Patient with Large Deletion in 9q22.32-q22.33 Detected by Quantitative Multiplex Fluorescent PCR
Vesna Musani^a, Maja Cretnik^a, Mirna Situm^b, Aleksandra Basta-Juzbasic^c, Sonja Levanat<sup>a

a</sup>Division of Molecular Medicine, Rudjer Boskovic Institute,
^bDepartment of Dermatovenerology, Clinical Hospital 'Sisters of Charity', and
^cDepartment of Dermatovenerology, Zagreb University Hospital Center, University of Zagreb, Zagreb, Croatia

Address of Corresponding Author

Dermatology 2009;219:111-118 (DOI: 10.1159/000219247)

  Key Words

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

  Abstract

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 characterize 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-q22.33 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.

Copyright © 2009 S. Karger AG, Basel

  Author Contacts

Sonja Levanat, PhD
Division of Molecular Medicine, Rudjer Boskovic Institute
Bijenicka 54
HR-10002 Zagreb (Croatia)
Tel. +385 1 456 1110, Fax +385 1 456 1010, E-Mail levanat@irb.hr

  Article Information

Received: December 11, 2008
Accepted: February 23, 2009
Published online: May 14, 2009
Number of Print Pages : 8
Number of Figures : 3, Number of Tables : 3, Number of References : 28
Additional supplementary material is available online - Number of Parts : 2