Table 1.
Lamin A/C mutations diagnosed in Norway (2003–15) and the mutations in our clinical cohort
| cDNA | Amino acid | Number of unrelated probands/different families (n = 35) | Allel frequency among probands referred to genetic testing for familial DCM | Subjects followed clinically (n = 79), n (%) |
|---|---|---|---|---|
| c.43C>T | p.Q15X | 1 | 1/1122 | 1 (1.3) |
| c.322A>G | p.K108Ea | 1 | 1/1122 | |
| c.427T>C | p.S143P | 1 | 1/1122 | 1 (1.3) |
| c.642delG | p.E214DfsX266a | 2 | 1/561 | 13 (17) |
| c.730G>A | p.A244Ta | 1 | 1/1122 | 1 (1.3) |
| c.868G>A | p.E290K | 2 | 1/561 | 1 (1.3) |
| c.886_887insA | p.R296QfsX35a | 11 | 1/102 | 18 (23) |
| c.961C>T | p.R321X | 6 | 1/187 | 35 (44) |
| c.976T>A | p.S326T | 1 | 1/1122 | |
| c.986G>A | p.R329Ha | 1 | 1/1122 | |
| c.992G>A | p.R331Q | 1 | 1/1122 | 2 (3) |
| c.1016C>A | p.A339Ea | 1 | 1/1122 | |
| c.1063C>T | p.Q355X | 1 | 1/1122 | 4 (5) |
| c.1064_1066del | p.Gln355dela | 1 | 1/1122 | |
| c.1129C>T | p.R377C | 1 | 1/1122 | 2 (3) |
| c.1381-1G>A | «-»a,b | 1 | 1/1122 | 1 (1.3) |
| c.1412G>A | p.R471H | 1 | 1/1122 | |
| c.1622G>A | p.R541H | 1 | 1/1122 |
cDNA, complementary DNA; DCM, dilated cardiomyopathy.
a
Novel mutation.
b
Mutations in an acceptor site may cause more than one mutant transcript with different effects at the protein level.