Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p90 | (1) | ICCBH2019

Osteogenesis imperfecta due to FKBP10 mutation- shift from high to low bone turnover

Lenherr-Taube Nina , Harrington Jennifer , Murphy Anne , Filipowski Kornelia , Kin On Wong Andy , Horward Andrew , Sochett Etienne

Background: Osteogenesis imperfecta (OI) due to FKBP10 mutation is a rare variant of OI. FKBP10 encodes for FKBP65, a molecular chaperon that interacts with type I procollagen to prevent premature fibril formation and plays a role in collagen crosslinking. Defects in FKBP65 result in a spectrum of moderate to severe OI with remarkable variability in phenotypes.Presenting problem: The patient is the first child of non-consanguineous Caucasian parents. She...