FIGURE 1.

Pedigree derived from NGS and Sanger sequencing. (a) Pedigree of the case‐006; Circles, female; squares, male; filled, patients; half of filled, mutation carrier. black bar, mutation (heterozygous c.658_660del, p. Lys220del) found in the case‐006 and her mother; red bar, epimutation encompassing the MMACHC promoter/exon 1 found in the case‐006 and her father; red arrow, a single heterozygous c.*2C>T mutation in PRDX1, that segregated with the phenotype across the proband and her father. (b) Sanger sequencing of the single heterozygous c.658_660del(p. Lys220del) mutation in MMACHC among family members. 006–1, father; 006–2, mother; 006–3, brother; case‐006, the patient