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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

Title
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
Authors
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
여창열
SCOPUS Author ID
여창열scopus
Issue Date
2013
Journal Title
American Journal of Medical Genetics, Part A
ISSN
1552-4825JCR Link
Citation
vol. 161, no. 8, pp. 2040 - 2046
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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.
DOI
10.1002/ajmg.a.36056
Appears in Collections:
자연과학대학 > 생명과학전공 > Journal papers
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