Strattification of clinical risk in Marfan syndrome: prospects of technology mass parallel sequencing
Abstract
We searched for pathogenic mutations and evaluated the results of using high-performance sequencing in a patient with a clinically established diagnosis of Marfan syndrome. Along with a mutation in gene of FBN1, which responsible for development of a life-threatening condition ‒ aneurysm and aortic dissection, the other variants of replacement of nucleotide sequences of uncertain significance was revealed. Clinical interpretation allows judging the possibility for their influence on the severity and course of the underlying disease from the standpoint of the development of other comorbid diseases.
About the Author
А. S. Rudoy
Военно-медицинский факультет в УО «Белорусский государственный медицинский университет»
Belarus
Belarus
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Review
For citations:
Rudoy А.S. Strattification of clinical risk in Marfan syndrome: prospects of technology mass parallel sequencing. Military Medicine. 2018;(2):117-121. (In Russ.)
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