[In 1991], the description of the first mutation in the fibrillin gene by Dietz et al made testing Lincoln DNA a realistic undertaking. Difficulties that have come to light as more cases are studied from the molecular point of view include the fact that the mutations in this very large gene are usually "private" ones occurring in only a single family. The best approach would be to sequence the coding parts and neighboring intronic sections of the entire gene. If a change is found that is not a normal variation, that would prove Marfan syndrome. If none is found, that would not completely exclude the possibility because the change might involve controller or intronic elements not covered in the sequencing.
-- Robinson and Godfrey, Marfan Syndrome: A Primer for Clinicians and Scientists (Springer, 2004)
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