Identification of a Novel <scp><i>FLT4</i></scp> c.<scp>3028A</scp>>C Variant Associated With Milroy Disease
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.
Authors
- Aigul Ibragimova (ORCID: https://orcid.org/0000-0001-7457-665X)
- Yuliya V. Filina (ORCID: https://orcid.org/0000-0002-1853-8365)
- Regina Miftakhova (ORCID: https://orcid.org/0000-0002-6686-1968)
- Eugenia A. Boulygina (ORCID: https://orcid.org/0000-0003-3458-1176)
- Albert Anatolyevich Rizvanov (ORCID: https://orcid.org/0000-0002-9427-5739)
- А. К. Фейсханов (ORCID: https://orcid.org/0000-0002-9547-1395)
- Elina Gaysina
Institutions
- Kazan Federal University (RU)
- Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan (RU)
- Institute of Bioorganic Chemistry (RU)
- Tatarstan Academy of Sciences (RU)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1111/cge.14671
- Citations
- 1
- Primary Topic
- Lymphatic System and Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.28
Funders
- Russian Science Foundation