The gene for Gorlin Syndrome was isolated in 1996 simultaneously in Australia and the U.S.A.  Chromosome 9 was found to be the faulty gene in 1993. This was achieved after accessing Information and data from families in the North West of England, Germany and the USA.

When the gene was discovered it highlighted how important it was in suppressing cell growth and development too. A good deal was known about the action of the gene patched in the fruit fly (Drosophila) and this has helped researchers to know more about Gorlin Syndrome.

PTCH1 gene is a tumour suppressor and it means it stops cells from reproducing rapidly in an uncontrolled way.  Faults in the gene prevent the production of PTCH1 or lead to the production of an abnormal version of the receptor. As a result 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