Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, Ryuto Maki, Takashi Suzuki, Yohei Nitta, Atsushi Sugie, Yoichi Asaoka, Makoto Furutani-Seiki, Tetsuaki Kimura, Yoichi Matsubara, Tadashi Kaname
Introduction: RRAS2, a member of the R-Ras subfamily of Ras-like low-molecular-weight GTPases, is considered to regulate cell proliferation and differentiation via the RAS/MAPK signaling pathway. Seven RRAS2 pathogenic variants have been reported in patients with Noonan syndrome; however, few functional analyses have been conducted. Herein, we report two patients who presented with a Noonan-like phenotype with recurrent and novel RRAS2 pathogenic variants (p.Gly23Val and p.Gly24Glu, respectively) and the results of their functional analysis...
2024: Frontiers in Genetics