PMC7373792_01
The clinical and genetic information of the family. (A) Pedigree of the family with low levels of HDL-c. Family members are identified by generations and numbers. Squares indicate male family members; circles, female members; closed symbols, affected members; open symbols, unaffected members; arrow, proband. (B) The coronary angiography of the proband, the arrow shows the stenosis of the anterior descending coronary artery. The ECG testing of the proband before percutaneous coronary intervention (C) and after percutaneous coronary intervention (D). (E) Sequencing results of the ABCA8 mutation. Sequence chromatogram indicates a C to T transition of nucleotide 3460. (F) The structure of ABCA8 and the summary of reported mutations of ABCA8.
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F1
Coronary angiography indicated approximately 60-80% stenosis of the anterior descending coronary artery (Figure 1B), ECG testing also suggested the patient suffered from CHD (Figure 1C). And breathing sound of the lungs was clearly, the heart rate was normal (Figure 1D), and the insertion site recovered well. After data filtering, a novel nonsense mutation (NM_007168: c.3460C>T; p.R1154X) of ABCA8 was identified and validated by Sanger sequencing in the proband (Figure 1E). Sanger sequencing further confirmed that only the affected individuals (II-2, II-4, and III-1) carried the novel nonsense mutation (NM_007168: c.3460C>T; p.R1154X) of ABCA8 (Figure 1F).