Table 1.

Genes associated with MFS and related diseases

Gene	Chromosomal region	Functions	Involvement in disease	Roles in TGF-β pathway	Reference
FBN1	15q21.1	A component of calcium-binding microfibrils, provide force-bearing structural support in connective tissue	MFS, MASS, EL, WMS, SGS, NPS	Maintain matrix structure and function, participate in the matrix sequestering of TGF-β	91-93
FBN2	5q23.3	A component of connective tissue microfibrils, assembled into elastic fiber	CCA	Maintain matrix structure and function, participate in the matrix sequestering of TGF-β	98-100
TGFBR1	9q22.33	Transduce the TGF-β signal	LDS	Transduce of TGF-β pathway signaling from the cell surface to the cytoplasm	101-103, 109
TGFBR2	3p24.1	Phosphorylates proteins and regulates the transcription of genes	MFS, LDS, tumors	Transduce of TGF-β pathway signaling from the cell surface to the cytoplasm	101-103, 109
LTBP-1	2p22.3	Targets the TGF-β to extracellular matrix	N/A	Regulate the concentration of TGF-β	112-115
LTBP-2	14q24.3	A component of TGF-β latent complex, a structural component of microfibrils	PCG, MSPKA, WMS3	Regulate the concentration of TGF-β	118,119
LTBP-3	11q13.1	Combines with TGF-β, a structural component of extracellular matrix	DASS, GPHYSD3	Regulate the concentration of TGF-β	112,113
SKI	1p36.33-p36.32	A repressor of TGF-β signaling, regulates the neural tube development and muscle differentiation	SGS	Inhibit the phosphorylation of Smad2 and Smad3	126,127

Abbreviations: CCA, Congenital Contractural Arachnodactyly; DASS, Dental anomalies and short stature; EL, ectopia lentis syndrome; GPHYSD3, Geleophysic dysplasia 3; LDS, Loeys-Dietz syndrome; MASS, Mitral valve, Aorta, Skeleton, Skin involvement; MFS, Marfan syndrome; MSPKA, Microspherophakia; NPS, Neonatal Progeroid syndrome; PCG, Primary Congenital Glaucoma; SGS: Shprintzen-Goldberg syndrome; WMS, Weill-Marchesani syndrome; N/A, not applicable.