Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Christina Lissewski (1) , Valérie Chune (2) , Francesca Pantaleoni (3) , Alessandro de Luca (4) , Yline Capri (2) , Julia Brinkmann (5) , Francesca Lepri (3) , Paola Daniele (4) , Erika Leenders (6) , Laura Mazzanti (7) , Emanuela Scarano (7) , Francesca Clementina Radio (3) , Kerstin Kutsche (8) , Alma Kuechler (9) , Marion Gérard (10, 11) , Kara Ranguin (10, 11) , Marine Legendre (12) , Yoann Vial (13, 14) , Ineke van Der Burgt (6) , Tuula Rinne (6) , Elena Andreucci (15) , Gioia Mastromoro (16) , Maria Cristina Digilio (3) , Hélène Cave (14, 13) , Marco Tartaglia (3) , Martin Zenker (5)

1 Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
2 Département de génétique [Robert Debré]
3 IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
4 IRCCS - Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo]
5 Institute of Human Genetics (University Hospital Magdeburg)
6 Radboud University Medical Center [Nijmegen]
7 St. Orsola University Hospital
8 UKE - Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg]
9 Institut für Humangenetik, Universitätsklinikum Essen, Essen
10 Service de Génétique [CHU Caen]
11 BIOTARGEN - Biologie, génétique et thérapies ostéoarticulaires et respiratoires
12 Hôpital Pellegrin, CHU de Bordeaux
13 IRSL - Institut de Recherche Saint-Louis - Hématologie Immunologie Oncologie (Département de recherche de l’UFR de médecine ; ex- Institut Universitaire Hématologie-IUH)
14 Hôpital Robert Debré Paris
15 UniFI - Università degli Studi di Firenze = University of Florence = Université de Florence
16 UNIROMA - Università degli Studi di Roma "La Sapienza" = Sapienza University [Rome]

Domaines: Génétique; Médecine humaine et pathologie

Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro de Luca, Yline Capri, et al.. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. European Journal of Human Genetics, 2021, 29 (1), pp.51-60. ⟨10.1038/s41431-020-00708-6⟩. ⟨hal-03212144⟩