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Registered Charity No: 1096361 |
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Supporting patients, their families, friends and carers affected by Gorlin Syndrome
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Autosomal Dominant Inheritance
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. |
But why am I the only person affected in my family?
In some families, only one person appears to be affected.
This could be because his or her mother or father had the syndrome, but the
effects were so mild that it was never diagnosed. An alternative
possibility is that the fault in the gene causing Gorlin syndrome happened for
the first time in that family in the egg or sperm which went to make the person.
This is called the result of a "new mutation" and we know that this
happens fairly frequently to the Gorlin syndrome gene. The children of
someone who is the first person to be affected can inherit the faulty gene, of
course, with the risks shown above. However, other members of the family
(parents and brothers and sisters of the affected person) may not be at risk of
the condition, and not need screening for the basal cell carcinomas or jaw
cysts. Referral to a genetics department may be helpful in deciding this.
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DNA tests - by looking directly at the mutation in the gene - may prove that
someone's disease is the result of a new fault, occurring for the first time in
him or her.  |
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Written and produced by Professor P A Farndon, Clinical
Geneticist at the National Genetics Education and Development Centre UK, Jim
Costello (deceased) & Margaret Costello, unless otherwise stated. |
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