Copyright
©The Author(s) 2023.
World J Clin Cases. Apr 16, 2023; 11(11): 2412-2422
Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2412
Published online Apr 16, 2023. doi: 10.12998/wjcc.v11.i11.2412
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 |
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 |
- Citation: Zhang XR, Ren H, Yao F, Liu Y, Song CL. Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy . World J Clin Cases 2023; 11(11): 2412-2422
- URL: https://www.wjgnet.com/2307-8960/full/v11/i11/2412.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v11.i11.2412