Camurati-Engelmann disease

Definition:

Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED.

References:

[1]. A Kinoshita, et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000 Sep;26(1):19-20. [Content Brief]

[2]. Akira Kinoshita, et al. TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. Am J Med Genet A. 2004 May 15;127A(1):104-107. [Content Brief]

[3]. T Saito, et al. Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. J Biol Chem. 2001 Apr 13;276(15):11469-72. [Content Brief]

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