Table 3. Detailed list and characteristics of putative mutations.
| Patient | Origin | Gene | Protein (c.DNA) | Allele | 1000 Genome MAF | ExAC MAF | SIFT | Polyp- 2 |
Mutation Taster |
Mutation Assessor | CADD score | Segregation | ACMG criteria | Literature-reported associated phenotypes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| QT4286 | Caribbean | EYA4 (NM_172105) | p.Arg356Gln (c.1085G>A) rs762144530 |
HtZ | absent | 0.002% (absent*) | D | D | D | M | 36 | Yes (affected father) | PP3, PP1 | Dominant DCM and hearing loss[17] |
| QT7052 | Caucasian | RBM20 (NM_001134363) | p.Arg761Qln (c.2282G>A) rs556897484 |
HtZ | 0.020% | 0.005% | D | D | D | L | 22.5 | Yes (affected father) | PP3, PP1 | Dominant DCM[18–19] |
| 1–46767 | Caucasian | COX15 (NM_004376) | p.Gly174Ser (c.520G>A) rs763842058 |
HtZ | absent | 0.005% | D | D | D | H | 36 | no | PP3, BS4 | Recessive Leigh Syndrome/cardio-encephalopathy |
| QT4029 | Caribbean | PSEN1 (NM_000021) | p.Tyr189Cys (c.566A>G) rs556147068 |
HtZ | 0.020% | 0.002% (0.01%*) | D | D | D | M | 21.3 | NA | PP3 | Dominant DCM [20] |
SIFT: D: damaging, T: tolerant; Polyphen-2: D: damaging, P: polymorphism; Mutation taster: D: damaging; Mutation Assessor: probability of pathogenic mutation: L: low, M: medium, H: High. DCM: dilated cardiomyopathy; RCM: restrictive cardiomyopathy, HCM: hypertrophic cardiomyopathy. HmZ: homozygous; HtZ: heterozygous. MAF: minor allele frequency. NA: not available.
*: EXAC MAF in African population.