PMC10169744_01
Clinical data and genetic analysis of the family. (A) Pedigree of the family. White circles/squares denote the unaffected family members, and the arrow indicates the proband. (B) Coronary angiography presented the right coronary stenosis (first picture) and left coronary stenosis (the second and third pictures). (C) Sanger sequencing of RECQL5 confirmed the novel mutation (NM_004259: c.1247T>C/p.I416T) in the proband and her affected sister. The arrows indicate the mutation site. (D) Alignment of multiple RECQL5 protein sequences across species. The I416-affected amino acid locates in the highly conserved amino acid region in different mammals (from Ensembl). The red column shows the I416 site. (E) The wild-type RECQL5 (WT) protein structure and the mutant RECQL5 (p.I416T) protein structure were predicted by SWISS-MODEL online software. The hydrophobic surface area and aliphatic index of the WT and mutated RECQL5 were predicted.
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F1
Coronary angiography suggested stenosis of multiple coronary arteries and complete occlusion of the left anterior descending coronary artery (Figure 1B). Additional Sanger analysis confirmed that the novel mutation was existent in the affected siblings and absent in the healthy controls and 200 local control cohorts (Figure 1C). Consortium (ExAC). Cross-species alignment analysis of RECQL5 amino acid sequences revealed that this mutated site was highly evolutionarily conserved (Figure 1D). I416T mutation changed the hydrophobic surface area and aliphatic index of RECQL5 (Figure 1E).