Avascular Necrosis of the Femoral Head Due to a Novel C Propeptide Mutation in COL2A1

摘要

We recently identified a novel C-propeptide missense mutation in a man presenting with bilateral avascular necrosis of the femoral head (AVFH) but no other COL2A1 stigmata. A hip-specific phenotype without other skeletal changes has never before been described for C-propeptide mutations (Table I), but is well described in COL2A1 helical mutations [Unger et al., 2001b; Richards et al., 2002; Zankl et al., 2004,2005; Nishimura et al., 2005; Kannu et al., 2009,2010]. Hip disease in association with a "spondlyloepiphyseal dysplasia like" phenotype due to C propetide mutations is also well known [Nishimura et al., 2005].