Conflict of interest: none.
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome
Article first published online: 3 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2040–2046, August 2013
How to Cite
2013. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis, and clinical features overlapping with Marfan and Loeys–Dietz syndrome. Am J Med Genet Part A. 161A:2040–2046., , , , , , , , , , , , , .
This paper is dedicated to the memory of Victor A. McKusick and to the vitality of Beatrice.
- Issue published online: 24 JUL 2013
- Article first published online: 3 JUL 2013
- Manuscript Accepted: 29 APR 2013
- Manuscript Received: 28 SEP 2012
- Intramural Research Program of the National Institutes of Health, National Institutes of Aging
- National Research Foundation of Korea. Grant Number: 20090-0076374
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga36056-sm-0001-SuppFig-S1.tif||867K||FIG. S1. The hands of the proband, age 8.|
|ajmga36056-sm-0002-SuppFig-S2.tif||364K||FIG. S2. The lower extremities of the proband, age 8.|
|ajmga36056-sm-0003-SuppFig-S3.tif||216K||FIG. S3. The face of the proband, age 4.5. Notable are the blue sclera, hypertelorism, malar hypoplasia, and tubular nose.|
|ajmga36056-sm-0004-SuppFig-S4.tif||2365K||FIG. S4. Right quadricep biopsy (40×) stained with hematoxylin and eosin showing normal muscle fiber architecture.|
|ajmga36056-sm-0005-SuppFig-S5.tif||2257K||FIG. S5. Right quadricep biopsy (40×) treated with ATPase, pH 9.4, showing the size and distribution of myofibers. Type 1 fibers are light; Type 2 fibers are dark.|
|ajmga36056-sm-0006-SuppFig-S6.tif||2388K||FIG. S6. Right quadricep biopsy (40×) with trichrome staining showing normal intramyofibril membranes and interstitial collagen.|
|ajmga36056-sm-0007-SuppFig-S7.tif||118K||FIG. S7. Distribution of size in Type 1 and Type 2 fibers in representative sections of the proband's muscle.|
|ajmga36056-sm-0008-SuppFig-S8.tif||339K||FIG. S8. N-cadherin expression levels. Protein expression levels of N-cadherin in whole cell lysate from human skin fibroblasts analyzed by Western blot. β-Tubulin was used as a loading control. Values expressed are normalized to loading controls.|
|ajmga36056-sm-0008-SuppFig-S9.tif||100K||FIG. S9. TGFB3 signaling in Xenopus embryos. Indicated amount of synthetic mRNAs were microinjected into Xenopus embryos after fertilization, and embryos harvested at Stage 9 for Western blot analysis. This representative Western blot is shown to indicate that any of the injected synthetic mRNAs are not sufficient along to trigger phosphorylation of Smad2. As seen in Figure 4 in the text, human TGFB3 and the TGFBR2 are required together to trigger the phosphorylation of Smad2.|
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