Faults in the patched
gene cause Gorlin 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.
When the gene was
discovered, it was realised that it is a very 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 gene patched
in the fruit fly is important in segmentation of the body. If the gene is
faulty, abnormal segmentation occurs. This relates to development in humans with
Gorlin syndrome. Faulty segmentation leads to bifid ribs, problems with vertebra
etc. ‘Patched’ also has an important role in suppressing cell growth, relating
to the skin and jaw problems in Gorlin syndrome.
We are planning to add
further information to this page on the function of the gene, how it interacts
with other genes to cause some of the features of the condition, and how the
faults (mutations) found in the gene in people with the syndrome might cause the
effects.
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‘Research is encouraging
and the future looks bright!!!’ |
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