Figure 2. MTHFR exosmic sequencing results of the proband and the parents. (A) MTHFR exosmic sequencing indicates a combined heterozygotic mutation in the proband (III2), the disease-associated mutations 1004G>A(R335H) heredities from the proband’s father (II3) and the p.Leu439Pro (L439P) mutation inherited from her mother (II4). (B) Schematic chart depicting the structure of the MTHRF gene and the protein. The letters highlighted with red box indicate the SNP/mutation sites in the gene and the corresponding amino acid residuals.