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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
TGFΒR1 9q33-q34 Transforming growth factor, beta receptor 1 Loeys-Dietz syndrome; Marfan-like syndrome 28a 1512 bp 9
TGFΒR2 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 TGFΒR1 mutation, 14 had Loeys-Dietz syndrome, 4 had thoracic aortic aneurysms, and 4 had Marfan-like syndrome. Of the 105 TGFΒR2 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).