Gorlin Syndrome is an autosomal dominant genetic condition (which can affect either sex). The Gorlin gene is one of approximately 100,000 genes present in each one of our cells (the body's building blocks).
For every characteristic humans possess, we inherit two genes - one from our mother and one from our father. Gorlin syndrome is caused when one gene of a particular gene pair contains a fault, the other gene of the pair being normal. Someone with Gorlin syndrome can pass on to a child either the copy of the gene causing the syndrome, or the normal gene of the pair. This means each child of a person with Gorlin syndrome has a 1 in 2 (50:50) chance of also inheriting the faulty gene, and so developing signs of the condition.
In the diagram below, the two chromosomes of each parent are shown. Also shown is the gene for Gorlin syndrome - the faulty gene is coloured in red, the "normal" genes in white. As can be seen, each child of a with the syndrome inherits either the faulty or the normal gene from the parent with the syndrome.
The gene for Gorlin Syndrome was isolated in 1996 simultaneously in Australia and the U.S.A. This was no mean task. Firstly 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.
People seeking genetic counselling may be newly diagnosed patients, new parents or couples planning a pregnancy, or family members concerned that they too may carry a disorder.
Originally produced by Professor P. A. Farndon, Clinical Geneticist, Jim Costello (deceased) and Margaret Costello. We are reliant on a team of medical advisors for the clinical content of the website. We are grateful for their continuing support.
Gorlin Syndrome Group is Registered Charity in the UK - No 1096361