How is Gorlin Syndrome Inherited?

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.

This leads to a pattern of inheritance in families as shown here.

 
Men are depicted by squares, and women by circles.  The symbol of someone who has the condition is coloured in.  In this family, four generations are affected.
Pattern of Inheritance
This pattern of people being affected can be understood by following the inheritance of the faulty gene from person to person.   If a person does not inherit the faulty gene, he or she will not show signs of the syndrome, nor pass it on to children.  The genes are laid out on chemical structures called chromosomes.  There are 23 pairs of chromosomes, one of each pair inherited from the father and the other from the mother.  The Gorlin syndrome gene is known to be on chromosome number 9.
 
Diagram and information provided by Prof Peter A Fardon, MD, FRCP
 
Next Review January 2017

 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 
 
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