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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
- 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
- Rienhoff H.Y.; Yeo C.-Y.; Morissette R.; Khrebtukova I.; Melnick J.; Luo S.; Leng N.; Kim Y.-J.; Schroth G.; Westwick J.; Vogel H.; Mcdonnell N.; Hall J.G.; Whitman M.
- Ewha Authors
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- American Journal of Medical Genetics, Part A
- vol. 161, no. 8, pp. 2040 - 2046
- SCI; SCIE; SCOPUS
- The transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys-Dietz syndromes (LDS, OMIM #609192). We described a syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, a failure of normal post-natal muscle development but no evidence of vascular disease; some of these features overlap with MFS and LDS. A de novo mutation in TGFB3 was identified by exome sequencing. Several lines of evidence indicate the mutation is hypomorphic suggesting that decreased TGF-β signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype. This is the first example of a mutation in the coding portion of TGFB3 implicated in a clinical syndrome suggesting TGFB3 is essential for both human palatogenesis and normal muscle growth. © 2013 Wiley Periodicals, Inc.
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