Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease

Table 1 Clinical and Electrocardiographic Features in Members of SH1190831 Family

Member	status	Age range(year)	Symptoms	Clinical ECG diagnosis	QRS axis	Heart Rate Beats/min	Electrocardiography			Mutation
Member	status	Age range(year)	Symptoms	Clinical ECG diagnosis	QRS axis	Heart Rate Beats/min	RA (mm)	RV (mm)	LVEF (%)	Mutation
III.1^a,b	P	7-11	ASD type III, Thyroglossal Sinus, Mitral Stenosis, Refractive Errors Of The Eye	RBBB	− 58°	75	29	34	63	WT/p.R1279X
II.2	P	57–61	sinus venosus atrial septal defect (ASD type III)	RBBB	−65°	88	35	33	59	WT/p.R1279X
II.3	H	36–40	Asymptomatic	ND	+ 42°	93	26	32	67	WT/WT
II.4	H	43–47	Asymptomatic	ND	+ 43°	85	31	30	64	WT/p.R1279X
II.5	H	40–44	Asymptomatic	ND	+ 42°	83	23	28	66	WT/WT

NA Not Detected, ASD Atrial Septal Defect, RBBB Right Bundle Branch Block, P Patient, H Healthy
^aWhole exome sequence is applied to this individual
^bIndex case

ISSN: 1471-2261