FIGURE 2.

Pedigree derived from Sanger sequencing. (a) Pedigree of the case‐007; Circles, female; squares, male; filled, patients; half of filled, mutation carrier. black bar, mutation (heterozygous c.609G>A, p.(Trp203Ter)) found in the case‐007 and his mother and brother; red bar, epimutation encompassing the MMACHC promoter/exon 1 found in the case‐007 and his father. (b) Sanger sequencing of the single heterozygous c.609G>A, p.(Trp203Ter) mutation in MMACHC among family members. 007–1, father; 007–2, mother; 007–3, brother; case‐007, the patient