Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy

Table 1 Clinical situation of dilated cardiomyopathy patients in the family

Pedigree number	Age	Gender	Age of first episode	LVDD (mm)	EF	Arrythmia
I-1	60 (death)	Male	-	-	-	-
II-1	63 (death)	Male	-	-	-	-
II-2	67	Male	-	57	74	Tachyarrhythmia
II-3	62	Male	47	67	23	Occasional premature beat
II-4	60	Male	53	72	46	Occasional premature beat
II-7	64	Female	58	60	45	Normal

Normal value of left ventricular diastolic dysfunction range: 45-55 mm (male), 35-50 mm (female). Normal value of ejection fraction range: 50%-70%. LVDD: Left ventricular diastolic dysfunction; EF: Ejection fraction.

Table 2 Results of full exon data filtering for 7 samples of the dilated cardiomyopathy pedigree

Sample	Total fragment	Both surviving read	Both surviving percent (%)	Forward surviving read	Forward surviving percent (%)	Reverse surviving read	Reverse surviving percent (%)
NKHS180096608-1A	46819669	44206494	94.42	1744245	3.73	479022	1.02
NKHS180096609-1A	49533235	46949404	94.78	1678343	3.39	520287	1.05
NKHS180096610-1A	48923103	46768485	95.60	1261086	2.58	556552	1.14
BDYE190000049-1A-A15-D709	40876211	38862445	95.07	1166146	2.85	500985	1.23
BDYE190000049-1A-A16-D712	41083445	37681342	91.72	2509536	6.11	328352	0.80
BDYE190000049-1A-A18-N710	48628579	45254586	93.06	2318870	4.77	604022	1.24
BDYE190000049-1A-A94-N709	40940470	38630007	94.36	1406632	3.44	533856	1.30

Table 3 Comparison results of full exon data in 7 samples of the dilated cardiomyopathy pedigree

Sample	Total read	Map read	Map percent (%)	Pair read	Pair percent (%)	Unmap read	Unmap percent (%)	Error rate	Insert size
NKHS180096608-1A	88412988	88409570	100.00	88406934	99.99	3418	0.00	1.423552e-03	240.0
NKHS180096609-1A	93898808	93894502	100.00	93891688	99.99	4306	0.00	1.443503e-03	251.1
NKHS180096610-1A	93536970	93533588	100.00	93530978	99.99	3382	0.00	1.420605e-03	263.9
BDYE190000049-1A-A15-D709	77724890	77721381	100.00	77719324	99.99	3509	0.00	1.472474e-03	268.5
BDYE190000049-1A-A16-D712	75362684	75358337	99.99	75354470	99.99	4347	0.01	1.745109e-03	242.0
BDYE190000049-1A-A18-N710	90509172	90505290	100.00	90502656	99.99	3882	0.00	1.417089e-03	228.7
BDYE190000049-1A-A94-N709	77260014	77257377	100.00	77255286	99.99	2637	0.00	1.423070e-03	247.2

Table 4 Comparison results of all exon coverage data in 7 samples of the dilated cardiomyopathy pedigree

Sample	Target length	Coverage length	Coverage ratio (%)	20× coverage length	20× coverage ratio (%)	Average coverage ratio
NKHS180096608-1A	60448148	60132794	99.48	57685743	95.43	120.31
NKHS180096609-1A	60448148	60141586	99.49	57964001	95.89	125.84
NKHS180096610-1A	60448148	60001829	99.26	57821317	95.65	121.60
BDYE190000049-1A-A15-D709	60448148	60134381	99.48	57334579	94.85	106.07
BDYE190000049-1A-A16-D712	60448148	60119415	99.46	57181880	94.60	109.16
BDYE190000049-1A-A18-N710	60448148	59997575	99.25	57728734	95.50	132.73
BDYE190000049-1A-A94-N709	60448148	59993121	99.25	57223253	94.67	110.74

Table 5 Mutation site information

Site	Mutation	Gene	Reference sequence	Gene subregion	Codon	Amino acid
Chr4: 113357817 (rs764952487)	T/C	ANK2	NM_001148	Exon38	c.T9199C	p.F3067L

Table 6 Clinical information and mutation site genotypes of the pedigree

Pedigree number	Gender	Age	DCM	ANK2 (T>C)
II-2	Male	67	Yes	T/C
II-3	Male	62	Yes	T/C
II-4	Male	60	Yes	T/C
II-6	Female	71	No	T/T
II-7	Female	65	Yes	T/C
II-8	Female	56	No	T/T
II-3’	Female	56	No	T/T
II-4’	Female	55	No	T/T
III-1	Male	40	Unknow	T/T
III-2	Male	41	Unknow	T/C
III-3	Male	38	Unknow	T/T
III-4	Male	32	Unknow	T/C
III-3’	Female	37	No	T/T
IV-3	Female	15	Unknow	T/T
IV-4	Female	13	Unknow	T/T
IV-1	Male	11	Unknow	T/T
IV-2	Male	11	Unknow	T/T
IV-5	Male	6	Unknow	T/C
IV-6	Female	2	Unknow	T/T

DCM: Dilated cardiomyopathy.