The gene for Gorlin Syndrome was isolated in 1996 simultaneously in Australia and the U.S.A.  Chromosome 9 was found to contain the faulty gene in 1993, using information and data from families in the North West of England, Germany and the USA.

When the gene was discovered, it was realised that it is an important gene, not only in suppressing cell growth, but in development. Much was known about the action of the gene patched in the fruit fly (Drosophila) and this has helped researchers to know more about the Gorlin Syndrome gene.

The PTCH1 gene is a tumour suppressor gene, which means it stops cells from reproducing too rapidly in an uncontrolled way.   Mutations or faults in this gene prevent the production of PTCH1 or lead to the production of an abnormal version of the receptor meaning that it cannot effectively suppress cell growth and division. As a result, cells reproduce uncontrollably to form tumours in Gorlin syndrome.

Information provided by Prof Peter A Farndon, MD, FRCP

Next Review January 2017