Bone Abstracts

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Three potential treatments all targeting the FGFR3 on different levels of the pathway are under development. To compare the different approaches there is a need for precise measurements of efficacy. COLX and other biomarkers of bone growth are biological by-products of endochondral bone growth. A nationwide study of AC...

Background: Since Microcephalic osteoplasic dysplasia; Saul Wilson Syndrome (SWS) was first reported by Saul and Wilson in 1990 only 14 cases have been reported worldwide. In 2018 Ferreira et al identified the pathophysiological mechanism for SWS as a recurrent De Novo Heterozygous COG4 Substitution.Objective: To describe the diagnostic process in a case of SWS.Presenting problem: The patient is the first-born child of healthy, non...

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) ...