PMC9315243_01
The genetic characteristics of the family with the MMACHC mutation. (A) The pedigree of the family. The proband is a compound heterozygous mutation in the MMACHC gene. Both of their parents are carriers. (B) Sequencegrams. MMACHC c.609G>A and c.80A>G were identified in the DNA of the patient (II-1). The mutation of MMACHC c.609G>A was found in DNA samples derived from his father (I-1). The mutation of MMACHC c.80A>G was found in DNA samples derived from his Mather (I-2).
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F1
Both mutations are pathogenic mutations, Her parents with normal clinical phenotype were c.609G > A and c.80A > G mutation carriers respectively, so the mutation inherited from her parents (Figure 1).