Nakhaei-Rad, Saeideh
Haghighi, Fereshteh
Bazgir, Farhad http://orcid.org/0000-0002-0689-7926
Dahlmann, Julia
Busley, Alexandra Viktoria
Buchholzer, Marcel http://orcid.org/0000-0001-7485-6918
Kleemann, Karolin
Schänzer, Anne
Borchardt, Andrea
Hahn, Andreas
Kötter, Sebastian
Schanze, Denny http://orcid.org/0000-0003-2748-9929
Anand, Ruchika
Funk, Florian
Kronenbitter, Annette Vera
Scheller, Jürgen
Piekorz, Roland P.
Reichert, Andreas S.
Volleth, Marianne http://orcid.org/0000-0003-2989-7459
Wolf, Matthew J.
Cirstea, Ion Cristian http://orcid.org/0000-0003-3204-1598
Gelb, Bruce D. http://orcid.org/0000-0001-8527-5027
Tartaglia, Marco
Schmitt, Joachim P.
Krüger, Martina
Kutschka, Ingo
Cyganek, Lukas
Zenker, Martin http://orcid.org/0000-0003-1618-9269
Kensah, George http://orcid.org/0000-0003-0219-8279
Ahmadian, Mohammad R. http://orcid.org/0000-0002-2034-8894
Funding for this research was provided by:
Bundesministerium für Bildung und Forschung (01GM1902C)
Deutsche Forschungsgemeinschaft (IRTG 1902 P6, AH 92/8-3)
European Network on Noonan Syndrome and Related Disorders
Article History
Received: 8 June 2022
Accepted: 2 June 2023
First Online: 21 June 2023
Competing interests
: B.D.G.’s institution receives royalties from genetic testing for RAF1 for Noonan syndrome from Correlegan, LabCorp, GeneDx, and Prevention Genetics. B.D.G. is a consultant for Day One Biopharmaceuticals and was recently a consultant for BioMarin. He received a sponsored research award from Onconova. M.Z. is a member of a scientific advisory board for Day One Biopharmaceuticals.
: Blood samples and dermal fibroblasts were obtained by skin biopsy from two unrelated female patients with Noonan syndrome carrying the heterozygous substitution c.770 C>T in exon 7 of RAF1 under protocols concerning research with biomaterials approved by the institution’s ethics committees (Justus-Liebig-University Giessen, Germany: AZ258/16; Otto von Guericke University Medical Center Magdeburg: 173/14; University Medical Center Göttingen: 10/9/15). Research with biomaterials was approved by the ethical committee of the Justus Liebig University of Giessen. Written informed consent was given by both parents of both individuals. One human iPSC line that was used in this study as a control, was generated from the human foreskin fibroblast-1 (HFF-1) cell line (ATCC).