Relationship between the type and position of mutation in the FBN1 gene and clinical manifestations of Marfan syndrome in children
D. Yu. Gritsevskaya,
A. N. Putintsev,
D. A. Nikolsky,
A. N. Semyachkina,
E. A. Nikolaeva,
M. A. Shkolnikova,
V. Yu. Voinova https://doi.org/10.25789/YMJ.2025.89.04
Abstract
For the first time in a Russian cohort of children, the association between the type and localization of the FBN1 gene mutation and the severity of clinical manifestations was demonstrated: LoF mutations lead to greater damage to the cardiovascular and skeletal systems; missense mutations lead to greater damage to the eyes. Mutations in exons 1-10 lead to the earliest onset of skeletal changes (foot and chest deformities), mutations in exons 11-20 - to the earliest appearance of lens ectopia, with less severe dolichostenomelia and less frequent formation of aortic dilatation. Mutations in exons 21-35 are accompanied by the earliest manifestation of spinal deformity. Mutations in exons 51-66 less often lead to lens ectopia.
About the Authors
D. Yu. Gritsevskaya
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
A. N. Putintsev
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
D. A. Nikolsky
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
A. N. Semyachkina
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
E. A. Nikolaeva
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
M. A. Shkolnikova
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
V. Yu. Voinova
Научно-исслед. клинич. ин-т педиатрии и детской хирургии им. академика Ю.Е. Вельтищева (Институт Вельтищева)
Russian Federation
Russian Federation
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Review
For citations:
Gritsevskaya D.Yu., Putintsev A.N., Nikolsky D.A., Semyachkina A.N., Nikolaeva E.A., Shkolnikova M.A., Voinova V.Yu. Relationship between the type and position of mutation in the FBN1 gene and clinical manifestations of Marfan syndrome in children. Yakut Medical Journal. 2025;(1):16-19. https://doi.org/10.25789/YMJ.2025.89.04
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