PMC9631435_01
Family pedigree displaying the mutations detected in MMACHC. (A) The pedigree of the family with cblC defects. The proband is the daughter, and her parents have no signs of MMA. (B) Mutations detected in the family. The proband has a compound heterozygous mutation, while c.271dupA was inherited from her mother and c.482 G>A was from her father.
fgene-13-1012558-g001.jpg
PMC9631435_01_fgene-13-1012558-g001.jpg
F1
According to the American College of Medical Genetics and Genomics (ACMG), both variants are pathogenic (Figure 1).