Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Orphanet journal of rare diseases - 21 May 2013
Malfait Fransiska, Symoens Sofie, Goemans Nathalie, Gyftodimou Yolanda, Holmberg Eva, López-González Vanesa, Mortier Geert, Nampoothiri Sheela, Petersen Michael Bjorn, De Paepe Anne
Abstract excerpt
BACKGROUND: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. METHODS: We performed biochemical and molecular analysis of type I (pro-) collagen in a cohort of seven patients referred with a clinical...
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