Table 1

Genes associated with connective tissue disorders

GeneDisorderNumber of patients tested for gene, nMutation present*, n
ABCC6Pseudoxanthoma elasticum30
ACTA2Familial thoracic aortic aneurysm and dissection; multisystemic smooth muscle dysfunction syndrome440
COL3A1Vascular Ehlers–Danlos syndrome525
COL5A1Ehlers–Danlos syndrome60
COL5A2Ehlers–Danols syndrome31
FBN1Marfan syndrome; Weill–Marchesani syndrome; acromicric dysplasia; familial thoracic aortic aneurysm and dissection; mitral valve prolapse, aortic root diameter at upper limits of normal for body size, stretch marks of the skin and skeletal conditions (MASS syndrome)413
FBN2Congenital contractural arachnodactyly200
FLNACardiac valvular dysplasia10
MED12Lujan–Fryns syndrome, Ohdo syndrome, Opitz–Kaveggia syndrome10
MTHFRHomocystinuria, hypertension, deep venous thrombosis, peripheral arterial disease11
MYLKFamilial thoracic aortic aneurysm70
MYH11Familial thoracic aortic aneurysm and dissection405
NOTCH1Aortic valve calcification, bicuspid aortic valve11
PRKG1Familial thoracic aortic aneurysm10
SCL2A10Arterial tortuosity syndrome380
SKIShprintzen–Goldberg syndrome70
SMAD3Loeys–Dietz syndrome type III400
SMAD4Myhre syndrome10
TGFB2Loeys–Dietz syndrome type IV180
TGFBR1Loeys–Dietz syndrome type I481
TGFBR2Loeys–Dietz syndrome type II, familial thoracic aortic aneurysm and dissection480
  • *Presence of mutation did not necessarily confer a diagnosis of connective tissue disorder unless mutation is known to be disease-causing.