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Table 1 Aortopathy panel genes

From: A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Gene name

Chromosomal locus

Protein

Disease

No. reported mutations

Transcript size

Exons

FBN1

15q21.1

Fibrillin

Marfan syndrome

601

8616 bp

66

TGFÎ’R1

9q33-q34

Transforming growth factor, beta receptor 1

Loeys-Dietz syndrome; Marfan-like syndrome

28a

1512 bp

9

TGFÎ’R2

3p22

Transforming growth factor, beta receptor 2

Loeys-Dietz syndrome; Marfan-like syndrome

105a

1779 bp

7

COL3A1

2q31

Collagen type III alpha 1

Ehlers Danlos Type IV

227

4401 bp

51

MYH11

16p13.13-p13.12

Myosin heavy chain 11

TAADb-patent ductus arteriosus

3

5919 bp

41

ACTA2

10q22-q24

smooth muscle actin, alpha 2

TAAD4 syndrome

19

1134 bp

9

SLC2A10

20q13.1

solute carrier family 2 (facilitated glucose transporter), member 10

Arterial Tortuosity syndrome

18

1626 bp

5

NOTCH1

9q34.3

Notch homolog 1, translocation-associated

BAV-TAAD syndrome

11

7668 bp

34

FBN2

5q23-q31

Fibrillin 2

BAV-TAAD syndrome

45

8739 bp

71

  1. aOf the 28 patients with a TGFÎ’R1 mutation, 14 had Loeys-Dietz syndrome, 4 had thoracic aortic aneurysms, and 4 had Marfan-like syndrome. Of the 105 TGFÎ’R2 mutations, 32 had Loeys-Dietz syndrome, 31 had Marfan-like syndrome, and 8 had thoracic aortic aneurysms.
  2. bThoracic aortic aneurysms and dissections (TAAD); Bicuspid-Aortic Valve (BAV).