Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema

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Mukenge , S , Jha , S K , Catena , M , Manara , E , Leppänen , V-M , Lenti , E , Negrini , D , Bertelli , M , Brendolan , A , Jeltsch , M & Aldrighetti , L 2020 , ' Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema ' , Molecular Genetics & Genomic Medicine , vol. 8 , no. 9 , 1389 . https://doi.org/10.1002/mgg3.1389

Title: Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema
Author: Mukenge, Sylvain; Jha, Sawan K.; Catena, Marco; Manara, Elena; Leppänen, Veli-Matti; Lenti, Elisa; Negrini, Daniela; Bertelli, Matteo; Brendolan, Andrea; Jeltsch, Michael; Aldrighetti, Luca
Other contributor: University of Helsinki, CAN-PRO - Translational Cancer Medicine Program
University of Helsinki, CAN-PRO - Translational Cancer Medicine Program
University of Helsinki, Helsinki One Health (HOH)






Date: 2020-09
Language: eng
Number of pages: 10
Belongs to series: Molecular Genetics & Genomic Medicine
ISSN: 2324-9269
DOI: https://doi.org/10.1002/mgg3.1389
URI: http://hdl.handle.net/10138/320997
Abstract: Background Milroy-like disease is the diagnostic definition used for patients with phenotypes that resemble classic Milroy disease (MD) but are negative to genetic testing forFLT4. In this study, we aimed at performing a genetic characterization and biochemical analysis of VEGF-C variations found in a female proband born with congenital edema consistent with Milroy-like disease. Methods The proband underwent next-generation sequencing-based genetic testing for a panel of genes associated with known forms of hereditary lymphedema. Segregation analysis was performed on family members by direct sequencing. In vitro studies were performed to evaluate the role of a novel identified variant. Results TwoVEGF-Cvariations were found in the proband, a novel p.(Ser65Arg) and a pathogenic c.148-3_148-2delCA, of paternal and maternal origin, respectively. Functional characterization of the p.(Ser65Arg) variation in vitro showed alterations in VEGF-C processing. Conclusions Our findings reveal an interesting case in which biallelic variants inVEGF-Care found in a patient with Milroy-like lymphedema. These data expand our understanding of the etiology of congenital Milroy-like lymphedema.
Subject: lymphatic system
Milroy disease
mutation
primary lymphedema
VEGF-C
GROWTH FACTOR-C
LYMPHANGIOGENESIS
MECHANISMS
MUTATION
1184 Genetics, developmental biology, physiology
3111 Biomedicine
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