Fig. 1

Identification of a MECOM gene variant in the proband. A The family pedigree of the proband. B Sanger sequencing results for the family. The black arrow indicates the mutation site detected exclusively in the proband, which is absent in her parents and brother. C Schematic of the MECOM domain and the location of the novel c.157_158del (p.M53Gfs*2) variant. D Conservation analysis of the p.M53Gfs*2 variant, showing the conservation of the Met53 residue across different mammalian species, including human, mouse, rat, chimpanzee, and bovine. NLS, nuclear localization sequence; CTBP, C-terminal-binding protein