Article
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
Human mutation - 1 Jun 2011
Lindahl Katarina, Barnes Aileen M, Fratzl-Zelman Nadja, Whyte Michael P, Hefferan Theresa E, Makareeva Elena, Brusel Marina, Yaszemski Michael J, Rubin Carl-Johan, Kindmark Andreas, Roschger Paul, Klaushofer Klaus, McAlister William H, Mumm Steven, Leikin Sergey, Kessler Efrat, Boskey Adele L, Ljunggren Osten, Marini Joan C
Abstract excerpt
Osteogenesis imperfecta (OI) is most often caused by mutations in the type I procollagen genes (COL1A1/COL1A2). We identified two children with substitutions in the type I procollagen C-propeptide cleavage site, which disrupt a unique processing step in collagen maturation and define a novel phenotype within OI. The patients have mild OI caused by mutations in COL1A1 (Patient 1: p.Asp1219Asn) or COL1A2 (Patient...
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