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 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.


CONCLUSIONS
We suggest that screening for large deletions should be included in standard mutation screening for Gorlin syndrome patients.
Musani
Vesna
V
Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia.
Cretnik
Maja
M
Situm
Mirna
M
Basta-Juzbasic
Aleksandra
A
Levanat
Sonja
S
D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D008991:Monitoring, Physiologic; D016133:Polymerase Chain Reaction; D018570:Risk Assessment; D017384:Sequence Deletion