Abstract
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype–phenotype correlations difficult. Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill–Marchesani syndrome and other acromelic dysplasias. How can mutations in one molecule result in disparate clinical syndromes? Current concepts of the fibrillinopathies require an appreciation of tissue-specific fibrillin microfibril microenvironments and the collaborative relationship between the structures of fibrillin microfibril networks and biological functions such as regulation of growth factor signaling.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 279-291 |
| Number of pages | 13 |
| Journal | Gene |
| Volume | 592 |
| Issue number | 1 |
| DOIs | |
| State | Published - Oct 10 2016 |
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Keywords
- FBN1
- Fibrillin
- Fibrillinopathies
- Marfan syndrome
- Microenvironment
- Thoracic aortic aneurysm
- Weill–Marchesani syndrome
ASJC Scopus subject areas
- Genetics
Cite this
FBN1 : The disease-causing gene for Marfan syndrome and other genetic disorders. / Sakai, Lynn; Keene, Douglas R.; Renard, Marjolijn; De Backer, Julie.
In: Gene, Vol. 592, No. 1, 10.10.2016, p. 279-291.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - FBN1
T2 - The disease-causing gene for Marfan syndrome and other genetic disorders
AU - Sakai, Lynn
AU - Keene, Douglas R.
AU - Renard, Marjolijn
AU - De Backer, Julie
PY - 2016/10/10
Y1 - 2016/10/10
N2 - FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype–phenotype correlations difficult. Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill–Marchesani syndrome and other acromelic dysplasias. How can mutations in one molecule result in disparate clinical syndromes? Current concepts of the fibrillinopathies require an appreciation of tissue-specific fibrillin microfibril microenvironments and the collaborative relationship between the structures of fibrillin microfibril networks and biological functions such as regulation of growth factor signaling.
AB - FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype–phenotype correlations difficult. Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill–Marchesani syndrome and other acromelic dysplasias. How can mutations in one molecule result in disparate clinical syndromes? Current concepts of the fibrillinopathies require an appreciation of tissue-specific fibrillin microfibril microenvironments and the collaborative relationship between the structures of fibrillin microfibril networks and biological functions such as regulation of growth factor signaling.
KW - FBN1
KW - Fibrillin
KW - Fibrillinopathies
KW - Marfan syndrome
KW - Microenvironment
KW - Thoracic aortic aneurysm
KW - Weill–Marchesani syndrome
UR - http://www.scopus.com/inward/record.url?scp=84989914336&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84989914336&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2016.07.033
DO - 10.1016/j.gene.2016.07.033
M3 - Review article
C2 - 27437668
AN - SCOPUS:84989914336
VL - 592
SP - 279
EP - 291
JO - Gene
JF - Gene
SN - 0378-1119
IS - 1
ER -