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Scientists Review Loeys-Dietz Syndrome in the Largest Ever Study to date

reactions that eventually lead to changes in cellular growth or movement or activity.

Nearly all Loeys-Dietz patients studied thus far have mutations in or near the kinase domains in their TGF-beta receptors. The mutations are passed on through families; however, syndrome-causing mutations also have been found in patients whose parents were not affected.

"The bottom line here is that looking for TGF-beta receptor mutations will be most useful in patients who have features shared by multiple syndromes," says Dietz.

A diagnostic test is available at Johns Hopkins' DNA Diagnostic Laboratory.

Source:Eurekalert
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