Gorlin syndrome patient with large deletion in 9q22.32– q22.33 detected by quantitative multiplex fluorescent PCR

Musani, Vesna; Čretnik, Maja; Šitum, Mirna; Basta-Juzbašić, Aleksandra; Levanat, Sonja (2009) Gorlin syndrome patient with large deletion in 9q22.32– q22.33 detected by quantitative multiplex fluorescent PCR. Dermatology, 219 (2). pp. 111-118. ISSN 1018-8665

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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 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– 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.

Item Type:	Article
Uncontrolled Keywords:	chromosome deletion; Gorlin syndrome; PTCH1; quantitative multiplex fluorescent polymerase chain reaction; sequence-tagged sites
Subjects:	BIOMEDICINE AND HEALTHCARE > Basic Medical Sciences
Divisions:	Division of Molecular Medicine
Projects:	Project title Project leader Project code Project type Signal transduction in tumors: Hh-Gli interactions and therapeutic potential (Prijenos signala u tumorima: Hh-Gli put, interakcije i potencijalne terapije)- Sonja Levanat 098-0982464-2461 MZOS
Depositing User:	Maja Sabol
Date Deposited:	27 Nov 2015 12:42
URI:	http://fulir.irb.hr/id/eprint/2314
DOI:	10.1159/000219247

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