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Table 3 Genetics and cardiac manifestations of LMNA mutated patients without neurological onset (N = 26)

From: Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

 

Gene

Location

Nucleotide Change

Protein Change

Predicted Effect

Family 1

M; 53 yo

LMNA

Exon 6

c.1004G > A

p.Arg335Gln

Missense

M; 26 yo

LMNA

Exon 6

c.1004G > A

p.Arg335Gln

Missense

Family 2

F; 47 yo

LMNA

Exon 7

1370delA

p.Lys457SerfsX2

Deletion

Family 3

M; 19 yo

LMNA

Exon 6

c.1003G > A

p.Arg335Glu

Missense

Family 4

F; 55 yo

LMNA

Exon 11

c.1912G > A

p.Gly638Arg

Missense

Family 5

M; 54 yo

LMNA

Exon 7

c.1202G > A

p.Arg401His

Missense

Family 6

M; 42 yo

LMNA

Exon 1

n/a

p.Arg72Alafs*24

Frame shift

Family 7

F; 51 yo

LMNA

Exon 4

c.752A > C

p.Gln251Pro

Missense

Family 8

M; 46 yo

LMNA

Exon 9

c.1517 A > C

p.His506Pro

Missense

Family 9

F; 38 yo

LMNA

Intron 9

c1608 + 1G > T

Splice site

M; 35 yo

LMNA

Intron 9

c1608 + 1G > T

Splice site

Family 10

F; 29 yo

LMNA

Exon 3

c.548 T > C

p.Leu183Pro

Missense

Family 11

F; 41 yo

LMNA

Exon 6

c.1007G > A

p.Arg336Gln

Missense

Family 12

M; 60 yo

LMNA

Intron 1

c.357-1G > A

IVS1-1G > A

Splice site

F; 46 yo

LMNA

Intron 1

c.357-1G > A

IVS1-1G > A

Splice site

F; 49 yo

LMNA

Intron 1

c.357-1G > A

IVS1-1G > A

Splice site

F; 49 yo

LMNA

Intron 1

c.357-1G > A

IVS1-1G > A

Splice site

M; 21 yo

LMNA

Intron 1

c.357-1G > A

IVS1-1G > A

Splice site

Family 13

M; 38 yo

LMNA

Exon 6

c.1129C > T

p.Arg377Cys

Missense

Family 14

M; 50 yo

LMNA

Exon 2

c.481G > A

p.Glu161Lys

Missense

Family 15

M; 46 yo

LMNA

Exon 2

c.466C > A

p.Arg156Ser

Missense

M; 34 yo

LMNA

Exon 2

c.466C > A

p.Arg156Ser

Missense

Family 16

M; 44 yo

LMNA

Exon 4

c.671 C > T

p.Thr224Ile

Missense

Family 17

F; 39 yo

LMNA

Exon 2

c.481G > A

p.Glu161Lys

Missense

Family 18

F; 37 yo

LMNA

Exon 2

c.513G > A

pLys171Asn

Missense

Family 19

F; 36 yo

LMNA

Exon 5

c.855delG

p.Ala287LeufsX191

Deletion

  1. M male, F female, yo years old. The age reported refers to first contact at our centre. n/a not available