case_images: PMC9481412_01
case_images: Genetic analysis of the DDC gene. (A) Pedigree for the proband's family. (B) Sanger sequencing analysis for DDC mutation identified in the family. (C) The missense variants sp.G140E and p.H459Y are highly conserved among species.
case_images: fneur-13-919583-g0001.jpg
case_images: PMC9481412_01_fneur-13-919583-g0001.jpg
case_images: F1
case_images: Mutation c.419G>A was inherited from her mother, and mutation c.1375C>T was inherited from her father (Figures 1A,B).