what-when-how
In Depth Tutorials and Information
FIGURE 22.1
Components of normal extracellular matrix and TGFbeta signaling. ADAMTSL: A Desintegrin and Metalloproteinase
with Thrombospondin Motifs (Like); LTBP: latent transforming growth factor beta binding protein; TGFB: transforming growth factor
beta; TGFBR1/2: transforming growth factor beta receptor; SKI: Sloan-Kettering Institute; SMAD: Small for body size/Mothers Against
Decapentaplegic; LEMD: LEM domain containing protein; TF: transcription factor.
TABLE 22.1
overview of TGFbeta-Related skeletal disorders
Syndrome
Gene
Key Skeletal Features
Marfan syndrome (MFS)
FBN1
Disproportionate tall stature, pectus deformities, scoliosis,
arachnodactyly
Loeys-Dietz type I/II (LDS)
TGFBR1/2
Arachnodactyly, pectus deformities, craniosynostosis
Osteoarthritis aneurysm LDS type III
SMAD3
Osteoarthritis, osteochondritis dissecans
LDS type IV
TGFB2
Mild skeletal overgrowth
Camurati-Engelman
TGFB1
Hyperostosis
Shprintzen-Goldberg (SGS)
SKI
Craniosynostosis, Marfanoid body habitus
Congenital contractural arachnodactyly (CCA)
or Beals syndrome
FBN2
Arachnodactyly
Geleophysic dysplasia
FBN1 (TB5)
Severe short stature, brachydactyly
Acromicric dysplasia (AR, AD)
ADAMTSL2, FBN1(TB5)
Severe short stature, brachydactyly
Weill-Marchesani (WMS) (AR, AD)
ADAMTS10, FBN1
Short stature, brachydactyly
Myhre syndrome
SMAD4
Short stature, brachydactyly
Stiff skin syndrome (SSS)
FBN1 (TB4)
Relative short stature
Buschke-Ollendorf syndrome
LEMD3
Osteopoikilosis
AD: autosomal dominant; AR: autosomal recessive.
