Anomalous right coronary artery originating from the aorta: a series of nine pediatric cases

BMC Pediatrics

Table 1 Whole-exon sequencing

Case #	Gene	Nucleotide/amino acid changes	Homozygote/ Heterozygote	Normal human frequency	Projections	Pathogenicity analysis	Mode of inheritance	Disease/Phenotype
1	RYR2	c.6593G > A (p.R219 8 H) exon43	Heterozygote	0.00008	Benign	Uncertain	1. Autosomal dominant 2. Autosomal dominant	1. Catecholamine-sensitive polymorphic ventricular tachycardia type 1 2. Arrhythmogenic right ventricular dysplasia/ cardiomyopathy type 2
1	LDB3	c.944 C > T (p.P315L) exon7	Heterozygote	0.0001	Benign	Uncertain	1. Autosomal dominant 2. Autosomal dominant	1. Dilated cardiomyopathy type 1 C, with or without LVNC 2. Myofibrillar myopathy, type 4
2	GDF1	c.503 C > T (p.A168V) exon8	Heterozygote		Benign	Uncertain	1. Autosomal recessive 2. Autosomal dominant	1. Right atrial isomerism 2. Dextral aortic ectopia type 3
4	LRP6	c.1276 C > T (p.R426X) exon6	Heterozygote			Likely pathogenic	Autosomal dominant	Coronary artery disease type 2
5	Negative
7	MEF2A	c.743G > A (p.G248D) exon8	Heterozygote	0.0004	Benign	Uncertain	Autosomal dominant	Coronary artery disease type 1
8	KALRN	c.2707 C > T (p.L903L) exon16	Heterozygote	0.0092		Uncertain		Coronary heart disease susceptibility type 5

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