REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION

V A Rumyantseva,E R Charchyan,Yu A Rogozhina,D V Bazarov,E V Zaklyazminskaya,A A Bukaeva

doi:10.15829/1560-4071-2016-10-7-14

Abstract

Aim . To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling. Material and methods. In the group of 37 patients with suspected Marfan syndrome we conducted analysis of coding exones and attached enthrones of the gene FBN1 with highly performing sequencing on platform IonTorrent. Results. After mutation screening in the sequences of gene FBN1, in 25 patients we confirmed the Marfan syndrome, and four of genetic mutation carriers did not have complete Ghent criteria. All genetic variants were analyzed and were applied at the stage of surgery planning for maximum radical result of surgical treatment and for medical genetic counseling of the families. Conclusion . The analysis performed, of clinical presentation, surgery indications and spectrum of post-operation complications in Marfan syndrome patients.

Highlights

Благодаря совершенствованию хирургического лечения за последние десятилетия продолжительность жизни у пациентов с синдромом Марфана (СМ) увеличилась
Несмотря на ограниченный размер выборки, показало целесообразность проведения ранней и пресимптоматической ДНК-диагностики у пациентов, планирующих косметическую коррекцию деформации грудной клетки, на примере выявления мутации p.C1989F в 49 экзоне гена FBN1 у пациента Г
5. Loeys BL, Dietz HC, Braverman AC et al The revised Ghent nosology for the Marfan syndrome; J Med Genet; 2010; 47: 476-85

Summary

ОРИГИНАЛЬНЫЕ СТАТЬИ

Группе из 37 пациентов с предполагаемым диагнозом “синдром Марфана был проведен анализ кодирующих экзонов и прилегающих интронных областей гена FBN1 путем высокопроизводительного секвенирования на платформе IonTorrent. М.н., наук, врач-генетик лаборатории медицинской генетики, Рогожина Ю. А. — врач-генетик лаборатории медицинской генетики, Букаева А. Отделением хирургии аорты и ее ветвей, Заклязьминская Е. V. Aim. To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling. After mutation screening in the sequences of gene FBN1, in 25 patients we confirmed the Marfan syndrome, and four of genetic mutation carriers did not have complete Ghent criteria. All genetic variants were analyzed and were applied at the stage of surgery planning for maximum radical result of surgical treatment and for medical genetic counseling of the families

Conclusion

Пролапс МК

Findings

Основные клинические критерии