Characterization of ANGPT2 mutations associated with primary lymphedema

Veli-Matti Leppänen; Pascal Brouillard; Emilia A. Korhonen; Tuomas Sipilä; Sawan Kumar Jha; Nicole Revencu; Veerle Labarque; Elodie Fastré; Matthieu Schlögel; Marie Ravoet; Amihood Singer; Claudia Luzzatto; Donatella Angelone; Giovanni Crichiutti; Angela D’Elia; Jaakko Kuurne; Harri Elamaa; Gou Young Koh; Pipsa Saharinen; Miikka Vikkula; Kari Alitalo

doi:10.1126/scitranslmed.aax8013

Research ArticleVascular Biology

Characterization of ANGPT2 mutations associated with primary lymphedema

View ORCID ProfileVeli-Matti Leppänen¹,²,*,
View ORCID ProfilePascal Brouillard³,*,
View ORCID ProfileEmilia A. Korhonen¹,
Tuomas Sipilä¹,
View ORCID ProfileSawan Kumar Jha²,
View ORCID ProfileNicole Revencu⁴,
Veerle Labarque⁵,
Elodie Fastré ³,
View ORCID ProfileMatthieu Schlögel³,
Marie Ravoet⁴,
Amihood Singer⁶,
View ORCID ProfileClaudia Luzzatto⁷,
View ORCID ProfileDonatella Angelone⁸,
View ORCID ProfileGiovanni Crichiutti⁹,
Angela D’Elia⁹,
View ORCID ProfileJaakko Kuurne¹,
View ORCID ProfileHarri Elamaa¹⁰,
View ORCID ProfileGou Young Koh¹¹,¹²,
View ORCID ProfilePipsa Saharinen ¹,²,
View ORCID ProfileMiikka Vikkula ³,¹³,†,‡ and
View ORCID ProfileKari Alitalo ¹,²,†,‡

¹Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.
²Translational Cancer Medicine Program, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.
³Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.
⁴Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium.
⁵Centre for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium.
⁶Barzilai Medical Center, 78306 Ashekelon, Israel.
⁷Padova University Hospital, 35128 Padova, Italy.
⁸A. Gemelli Hospital, 00168 Roma, Italy.
⁹Azienda Ospedaliero-Universitaria Santa Maria della Misericordia, 33100 Udine, Italy.
¹⁰Oulu Centre for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland.
¹¹Center for Vascular Research, Institute of Basic Science (IBS), 34141 Daejeon, Republic of Korea.
¹²Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), 34141 Daejeon, Republic of Korea.
¹³Walloon Excellence in Lifesciences and Biotechnology (WELBIO), University of Louvain, 1200 Brussels, Belgium.

↵‡Corresponding author. Email: miikka.vikkula{at}uclouvain.be (M.V.); kari.alitalo{at}helsinki.fi (K.A.)

↵* These authors contributed equally to this work.
↵† These authors contributed equally to this work.

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Science Translational Medicine 09 Sep 2020:
Vol. 12, Issue 560, eaax8013
DOI: 10.1126/scitranslmed.aax8013

Veli-Matti Leppänen

1Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

2Translational Cancer Medicine Program, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.

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Pascal Brouillard

3Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

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Emilia A. Korhonen

1Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

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Tuomas Sipilä

1Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

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Sawan Kumar Jha

2Translational Cancer Medicine Program, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.

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Nicole Revencu

4Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium.

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Veerle Labarque

5Centre for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium.

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Elodie Fastré

3Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

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Matthieu Schlögel

3Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

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Marie Ravoet

4Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium.

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Amihood Singer

6Barzilai Medical Center, 78306 Ashekelon, Israel.

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Claudia Luzzatto

7Padova University Hospital, 35128 Padova, Italy.

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Donatella Angelone

8A. Gemelli Hospital, 00168 Roma, Italy.

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Giovanni Crichiutti

9Azienda Ospedaliero-Universitaria Santa Maria della Misericordia, 33100 Udine, Italy.

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Angela D’Elia

9Azienda Ospedaliero-Universitaria Santa Maria della Misericordia, 33100 Udine, Italy.

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Jaakko Kuurne

1Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

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Harri Elamaa

10Oulu Centre for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland.

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Gou Young Koh

11Center for Vascular Research, Institute of Basic Science (IBS), 34141 Daejeon, Republic of Korea.

12Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), 34141 Daejeon, Republic of Korea.

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Pipsa Saharinen

1Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

2Translational Cancer Medicine Program, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.

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Miikka Vikkula

3Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

13Walloon Excellence in Lifesciences and Biotechnology (WELBIO), University of Louvain, 1200 Brussels, Belgium.

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For correspondence: miikka.vikkula@uclouvain.be kari.alitalo@helsinki.fi

Kari Alitalo

1Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

2Translational Cancer Medicine Program, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.

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For correspondence: miikka.vikkula@uclouvain.be kari.alitalo@helsinki.fi

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Characterization of ANGPT2 mutations associated with primary lymphedema

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