Bone Abstracts

Osteogenesis imperfecta (OI) is a genetic disorder, leading to fragility of the bones. The clinical variability is extreme, ranging from relatively mild to perinatally lethal. Secondary features such as short stature, blue sclerae, dentinogenesis imperfecta and hearing loss may also exist in affected individuals. OI is most often caused by mutations in the collagen type I genes COL1A1 and COL1A2, that show a dominant mode of inheritance. The least severe OI c...

Biographical DetailsG Pals is Director of the Centre for Connective Tissue Research at the VU University Medical Center (VUMC) in Amsterdam, The Netherlands. Following completion of his MSc in Biochemistry in Utrecht he completed his PhD training in Human Genetics in Amsterdam. In 1987 he held a position as Visiting Scientist/Professor at Wayne State University in Detroit, USA, and then a...

Fibrodysplasia ossificans progressiva (FOP) is a rare, extremely disabling genetic disorder characterized by progressive heterotopic ossification preceded by episodic inflammatory soft tissue swellings (flare ups) leading to early death. There is no proven effective treatment yet. We aimed to develop an in vitro system to investigate the working mechanism of flare ups induced ossification.Skin biopsies were obtained from four patients with FOP. ...

Background: Fibrodysplasia Ossificans Progressiva (FOP) is a progressive disease characterized by periods of heterotopic ossification, often in ligaments. The underlying mechanism is far from clear, partially due to limited access to patient-derived cell models. Periodontal ligament fibroblasts (PLF) from extracted teeth can potentially be used to study deviant bone remodelling processes in vitro since these cells are derived from actual ligaments. They further provid...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...