PMC8414571_01
(A) Electrocardiogram of patient at 3 years old. (B) Color Doppler echocardiography report of patient pre- and post-operation.
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F1
After examination, he was diagnosed with HHS (patent ductus arteriosus, persistent left superior vena cava, and congenital absence of left arm radius) (Figures 1A, 2A). PDA ligation under general anesthesia was performed in the patient, and the procedure was successful (Figure 1B).
(A) Facial and left-hand appearance of affected individual at 3 years old. (B) Facial, left-hand, and dorsum appearance of affected individual at 14 years old.
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F2
After examination, he was diagnosed with HHS (patent ductus arteriosus, persistent left superior vena cava, and congenital absence of left arm radius) (Figures 1A, 2A). An imbalance of the dorsal muscles was observed (Figure 2B).
Genetic analysis. (A) Pedigree of patient. Solid black, affected. (B) Sanger sequencing verified this de novo variant. (C) Amino acid alignment analysis showed ACTL6A protein is evolutionarily highly conserved. (D) Referenced and mutated ACTL6A protein model.
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F3
After obtaining consent from the patient's parents, we recruited their blood and inquired about their family and previous medical history (Figure 3A). Sanger sequencing was performed to validate this variant (Figure 3B). The amino acid sequence was highly conserved (Figure 3C). There is a large distinction between the standard and mutant protein models constructed with SWISS-MODEL, which may affect the assembly of the BAF complex (Figure 3D).