Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p145 | (1) | ICCBH2013

The recurrent IFITM5 c.−14C>T transition which causes osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide: a novel mutational hot-spot?

Monti Elena , Mottes Margherita , Venturi Giacomo , Corradi Massimiliano , Gandini Alberto , Maines Evelina , Morandi Grazia , Piona Claudia , Antoniazzi Franco

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...