PMC9885213_01
Pedigree diagrams for the three case study patients. (A) Case study 1. (B) Case study 2. (C) Case study 3.
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F2
Subsequent whole exome sequencing testing has confirmed that the two siblings with similar symptoms have AADC deficiency caused by pathogenic variants in the DDC gene and one brother is a carrier (Figure 2B). Subsequently, a sibling was born and diagnosed with AADC deficiency within the first few months of life owing to the known family history (Figure 2C).
PMC9885213_02