Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease.

Autor: Feiskhanov A; Kazan (Volga Region) Federal University, Kazan, Russia., Ibragimova A; Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry of the Russian Academy of Sciences, Moscow, Russia., Gaysina E; Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan, Russia., Boulygina E; Kazan (Volga Region) Federal University, Kazan, Russia., Rizvanov A; Kazan (Volga Region) Federal University, Kazan, Russia.; Division of Medical and Biological Sciences, Tatarstan Academy of Sciences, Kazan, Russia., Miftakhova R; Kazan (Volga Region) Federal University, Kazan, Russia., Filina Y; Kazan (Volga Region) Federal University, Kazan, Russia.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Dec 18. Date of Electronic Publication: 2024 Dec 18.
DOI: 10.1111/cge.14671
Abstrakt: VEGFR3 (FLT4) is crucial for embryonic lymphangiogenesis, and defects in this receptor can lead to congenital lymphedema type 1A (Milroy disease). This study analyses FLT4 gene sequence in 24 primary lymphedema patients, identifying genetic variants in five patients resembling typical Milroy disease. A novel likely pathogenic variant (c.3028A>C) was identified, and the pathogenicity of two previously described variants (c.3175G>C and c.3298T>C) was supported.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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