Fig. 2

Single-gene inherited disease was verified by Sanger sequencing. The pathogenic variant of ARSA; NM_000487.5; c.1344_1345insC; p.Gly449Argfs*124 was inherited from mother. The pathogenic variant of ARSA; NM_000487.5; c.736C > p.Arg246Cys was inherited from father. The fetus was genetically normal and did not inherit these variants from parents