Article
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.
Human molecular genetics - 15 Oct 2014
Haupt Julia, Deichsel Alexandra, Stange Katja, Ast Cindy, Bocciardi Renata, Ravazzolo Roberto, Di Rocco Maja, Ferrari Paola, Landi Antonio, Kaplan Frederick S, Shore Eileen M, Reissner Carsten, Seemann Petra
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a disabling genetic disorder of progressive heterotopic ossification (HO). Here, we report a patient with an ultra-rare point mutation [c.619C>G, p.Q207E] located in a codon adjacent to the most common FOP mutation [c.617G>A, p.R206H] of Activin A Receptor, type 1 (ACVR1) and that affects the same intracellular amino acid position in the GS activation domain as the...
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