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Table 2 Genetics of LMNA mutated patients with neurological onset (N = 14)

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

F; 16 yo

LMNA

Exon 4

c.746G > A

p.Arg249Gln

Missense

Family 2

F; 50 yo

LMNA

Exon 9

c.1580G > C

p.Arg.527.Pro

Missense

Family 3

M; 38 yo

LMNA

Exon 11

c.1930C > T

p.Arg644Cys

Missense

M; 38 yo

LMNA

Exon 11

c.1930C > T

p.Arg644Cys

Missense

Family 4

F; 46 yo

LMNA

Exon 3

Exon 4

c.569G > A;

c. 746G > A

p.Arg190Gln

p.Arg249Gln

Missense

Missense

Family 5

F; 34 yo

LMNA

Exon 1

c.203_208 (delAGGTGG)

p.Glu68_Val69 del

Deletion

Family 6

M; 52 yo

LMNA

Exon 4

c.746G > A

p.Arg249Gln

Missense

Family 7

M; 46 yo

LMNA

Exon 9

c.1567G > A

p.Gly523Arg

Missense

Family 8

M; 17 yo

LMNA

Exon 4

c.775 T > G

p.Tyr259Asp

Missense

Family 9

M; 19 yo

LMNA

Exon 4

c.746 G > A

p.Arg249Gln

Missense

Family 10

F; 29 yo

LMNA

Intron 9

c.1608 + 1G > T

Splice site

Family 11

F; 22 yo

LMNA

Exon 1

c.188 T > A

p.Ile63Asn

Missense

F; 19 yo

LMNA

Exon 1

c.188 T > A

p.Ile63Asn

Missense

Family 12

M; 27 yo

LMNA

Exon 4

c.746G > A

p.Arg249Gln

Missense

  1. M male, F female, yo years old. The age reported refers to first contact at our centre