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Am J Med Genet A August 1, 2013; 161A (8): 2040-6.

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 HY , Yeo CY , Morissette R , Khrebtukova I , Melnick J , Luo S , Leng N , Kim YJ , Schroth G , Westwick J , Vogel H , McDonnell N , Hall JG , Whitman M .

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.

PubMed ID: 23824657
PMC ID: PMC3885154
Article link: Am J Med Genet A
Grant support: [+]

Species referenced: Xenopus
Genes referenced: actl6a mapk1 nog prl.2 smad1 smad2 tgfb1 tgfbr2l
GO keywords: transforming growth factor beta receptor signaling pathway [+]

Disease Ontology terms: Loeys-Dietz syndrome [+]
Phenotypes: Xla Wt + nog (Fig 5. row 2 column 3)

Article Images: [+] show captions
References [+] :
Amthor, Myostatin imposes reversible quiescence on embryonic muscle precursors. 2006, Pubmed