Table 1.
Mutations identified in DCM cohort.
| Family | Gene Symbol | Inheritance | Transcript Variant | Protein Variant | CADD or pLI Score (%ile) | ExAC MAF (Eur) | Gene Ontology |
|---|---|---|---|---|---|---|---|
| DC-82 * | TAF1A | CH | c.251T>C c.1021G>A NM_005681.3 |
p.L84S p.G341R |
27.2 (85) 34.0 (99) |
0.007% 0.004% |
rRNA transcription |
| DC-86 * | ALMS1 | CH | c.4156dupA c.6436C>T NM_015120.4 |
p.T1386fs*15 p.R2146* |
pLI = n/a | 0.001% 0.001% |
Formation/maintenance of primary cilia |
| DC-87 * | TNNT2 | De novo | c.421C>T NM_001001430.2 | p.R141W | 33.0 (>95) | -- | Sarcomeric force generation |
| DC-90 | LMNA | De novo | c.868G>A NM_170707.3 | p.E290K | 35.0 (>99) | -- | Nuclear lamina |
| DC-92 | RBM20 | Presumed de novo | c.1913C>T NM_001134363.2 | p.P638L | 28.0 (90) | -- | Spliceosome |
| DC-94 * | RRAGC | De novo | c.224C>A NM_022157.3 | p.S75Y | 27.2 (85) | -- | mTORC1 activation |
| DC-95 | TNNT2 | De novo | c.392G>A NM_001001430.2 | p.R131Q | 33.0 (>95) | -- | Sarcomeric force generation |
| DC-97 | PRDM16 | De novo | c.1047dupC NM_022114.3 | p.S350fs*48 | pLI = 1.00 (100) | -- | Transcriptional regulation |
| DC-101 | LMNA | De novo | c.868G>A NM_170707.3 | p.E290K | 35.0 (>99) | -- | Nuclear lamina |
--, not reported; ALMS1, centrosome and basal body associated protein; CH, compound heterozygous; LMNA, Lamin A/C; pLI, probability of loss-of-function intolerance; MAF, minor allele frequency; n/a, not applicable (recessive disorder caused by compound heterozygous truncating mutations); PRDM16, PR domain containing protein 16; RBM20, RNA-binding motif protein 20; RRAGC, Ras-related GTP-binding protein C; TAF1A, TATA box-binding protein-associated factor 1A; TNNT2, troponin T2, cardiac. * previously reported mutation [7,8,9,10].