Table 2 Families with lamin A/C gene mutations: genotype-phenotype correlations

p.Arg541Cys (c.1621C > T)

10/ Tail, end of Lamin Tail Domain (LTD)

No

DCM + CD (LBBB) and SWMA

Positive family history of HF

1

1 (100%)

1 (100%)

1 at 15 y

Yes, at 22 y

Family A

p.Arg541Gly (c.1621C > G)

10/ Tail, end of Lamin Tail Domain (LTD)

No

DCM + CD (NBBB) and SWMA

Familial

3

2 (66%)

2 (66%)

0

No

Family B

p.Arg89Leu (c.266G > T)

Rod domain, (MLIP interaction region, Coil 1B)

No

DCM + AVB

Familial

1

1(100%)

1(100%)

0

Yes, at 34 y

Family C

p.Val256Gly (c.767 T > G)

Rod domain, Coil 2

Yes

DCM + AVB

Sporadic

1

1 (100%)

1(100%)

0

No

Family I

p.Gly400Argfs*11 (c.1197_1240del44)

Tail

Yes

DCM + AVB + SSS

Positive family

3

2 (66%)

0

2 (66%)

0

0

Family E

history of HF

p.Thr510Tyrfs*42 (1526_1527insC)

Tail, Lamin Tail Domain (LTD)

No

DCM + AVB

Familial

5

4 (80%)

4 (80%)

3(60%)

1 F at 25 y

Yes, proband at 45 y

Family G

and 1 M at 56 y

p.Gln246* (c.736C > T)

Rod domain, Coil 2

No

DCM + AVB

Positive family

2

1 (50%)

1 (50%)

0

No

Family D

history of HF

p.Ser431* (c.1292C > G)

Tail

Yes

DCM + AVB

Familial

5

4 (80%)

3 (60%)

Proband at 43 y,

Yes, proband at 43 y,

Family F

Another M at 50 y

p.Tyr481* (c.1443C > G)

Tail, Lamin Tail Domain (LTD)

No

DCM + AVB

Positive family history of HF

4

4 (100%)

4 (100%)

2(50%)

0

Yes, proband at 40 y

Family H

Total number

N = 25

N = 20

N = 17

N = 8

N = 4

N = 6