The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
Goekhan Yigit, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M White, Alexandrea Wadley, Mohammad R Toliat, Susanne Motameny, Marek Franitza, Chloe A Stutterd, Pin F Chong, Ryutaro Kira, Toru Sengoku, Kazuhiro Ogata, Maria J Guillen Sacoto, Christine Fresen, Bodo B Beck, Peter Nuernberg Show all
Human Mutation | WILEY | Published : 2019
Awarded by Japan Agency for Medical Research and Development (AMED)
Awarded by Japan Society for the Promotion of Science (JSPS) KAKENHI
Awarded by Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany's Excellence Strategy
Awarded by DFG (German Research Foundation)
We are grateful to all family members that participated in this study, Luise Graichen, Elisabeth Kirst, and Ramona Caspar for excellent technical assistance, and Karin Boss for critically reading the manuscript. Furthermore, we thank the Regional Computing Center of the University of Cologne (RRZK) for providing computing time on the Deutsche Forschungsgemeinschaft (DFG) funded high-performance computing system CHEOPS as well as support. This work was supported by AMED to N. Matsumoto; JSPS KAKENHI to N. Matsumoto and to N. Miyake; grants from the Ministry of Health, Labor, and Welfare to N. Matsumoto; grants from the Takeda Science Foundation to N. Matsumoto and N. Miyake; the DFG (German Research Foundation) under Germany's Excellence Strategy to B. Wollnik; the DFG (German Research Foundation)-Clinical research unit to J. Altmuller. This work was supported by the Japan Agency for Medical Research and Development (AMED), grant/award numbers: JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, and JP18kk020501; Japan Society for the Promotion of Science (JSPS) KAKENHI, grant/award numbers: JP17H01539 and JP19H03621; Deutsche Forschungsgemeinschaft (DFG; German Research Foundation) under Germany's Excellence Strategy, grant/award number: EXC 2067/1-390729940; DFG (German Research Foundation), grant/award numbers: KFO 329, AL901/2-1, and AL901/3-1.